Abstract: Purpose: To determine the accuracy of sonographic weight estimation (WE) for fetuses with congenital diaphragmatic hernia (CDH), and to assess whether certain sonographic models perform better than others in cases of CDH.Material and Methods: In a retrospective, multicenter cohort study, the accuracy of WE in fetuses with CDH (n = 172) was evaluated using eight sonographic models and was compared with a control group of fetuses without malformations (n = 172). Each fetus underwent ultrasound examination with complete biometric parameters within 7 days of delivery. The accuracy of the different formulas was compared using means of percentage errors (MPE), medians of absolute percentage errors (MAPE), and proportions of estimates within 10 % of actual birth weight.Results: Fetuses with CDH had a significantly lower abdominal circumference (AC) in comparison with the control group (293.6 vs. 312.0 mm, p < 0.001). All of the formulas tested in fetuses with CDH, except for the Siemer equation (the only model that does not incorporate any abdominal measurements), showed significantly lower (more negative) MPEs, larger MAPEs, and smaller proportions of estimates within 10 % of actual birth weight in comparison with the control group. Conclusion: The accuracy of sonographic WE in fetuses with CDH is significantly poorer than in fetuses without malformations, principally because of a larger systematic error due to artificially small AC measurements. The development of new, specific models derived from fetuses with CDH could improve the accuracy of WE for infants with this condition.
Abstract: This study was conducted to evaluate and analyze the efficacy and safety of using gemeprost for second- and third-trimester termination of pregnancy (TOP) in women with uterine scar due to previous cesarean section.
Abstract: To evaluate the prenatal features, associated anomalies and the postnatal management in fetuses with prenatally detected double-outlet right ventricle (DORV).
Abstract: Abstract In fetal autopsies coronal clefts - a radiolucent band running through at least one vertebral body, visualized in the lateral spinal radiograph and discussed as a physiological variation of the fetal vertebral ossification pattern - are often found in fetuses with trisomies. Published studies are missing concerning the question whether this finding could serve as a diagnostic radiological or even ultrasonographic sign. We studied the incidence of radiological coronal clefts and their association with chromosomal aberrations in 443 fetuses (mainly medically induced abortions). In 42 of the 443 fetuses (9.5%) coronal clefts were visualized. The majority of these (71%) was localized in the lumbar spine. No cervical or singular sacral clefts were detected. 25 of the 42 fetuses (60%) displaying coronal clefts had chromosomal aberrations, either as trisomy (13 or 21) or monosomy X. Histologically, coronal clefts showed a missing central ossification of the vertebral body. Remnants of the notochord could be excluded. Hence, coronal clefts represent a variant ossification of vertebral bodies in fetal development, which is almost exclusively found in fetuses with chromosomal aberrations or severe congenital malformations. This finding could be a helpful supplement to prenatal diagnostics and fetal autopsy. On the other hand, the genetic diagnosis of chromosomal aberration, especially trisomy, does not automatically imply the presence of coronal clefts. Key words: Coronal clefts, chromosomal aberration, fetus, vertebral ossification, notochord, fetal.
Abstract: Here we describe a patient with a new malformation syndrome which shows similarities with Yunis-Varon syndrome (YVS). Prenatal presentation included polyhydramnios, increased nuchal translucency, and bilateral hydrothoraces requiring pigtail insertion. Postnatal presentation revealed primary pulmonary hypertension (PPH), persistent hydrothoraces, one atrial and two ventricular septal defects, hypoplasia of the corpus callosum and cerebellar vermis, dilated interhemispheric ventricles, severe developmental delay with general muscular hypotonia, retinal anomalies, sparse scalp hair, sparse eyebrows and eyelashes, hypo- and aplastic nails, low-set dysplastic ears, loose nuchal skin, hypo- and aplastic distal phalanges of the toes as well as postnatal failure to thrive. High resolution molecular karyotyping in the patient did not reveal any causative chromosomal aberration. Since one patient with YVS and PPH has been previously reported, we assume a similar pathogenic pathway. However, molecular confirmation of the clinical diagnosis is not yet possible. It remains uncertain if the presented syndrome can be classified as YVS with PPH or if it constitutes a new YVS like entity.
Abstract: The aim of this study was to assess global and regional longitudinal peak systolic ventricular function in fetuses with congenital heart disease (CHD) and compare measurements derived from feature tracking with reference values of healthy fetuses with a matching gestational age.
Abstract: Fetal ductus venosus (DV) blood flow velocity waveforms are significantly altered during contractions in first stage of labor. We have evaluated the reproducibility of these waveforms during and between contractions.
Abstract: Isolated esophageal atresia (EA) is a rare congenital malformation whose etiology remains largely unknown. Nine twin pairs with EA were identified from our clinical service, prompting the performance of a systematic review of the literature and the first reported twin study of isolated EA.
Abstract: Cardiac malformations with impact on loading patterns have the potential to progress to irreversible loss of ventricular function during human fetal life. N-terminal pro-B-type natriuretic peptide (nt-proBNP) is a marker of cardiac dysfunction and involved in cardiac remodeling and fibrosis. We evaluated nt-proBNP levels in the circulation of human fetuses with cardiac defects. A total of 45 cases and 75 controls during the second half of gestation were recruited. Nt-proBNP concentrations were determined in venous specimens obtained by fetal blood sampling. Results were correlated to echocardiography and Doppler studies. Mean gestational age was 26.9 weeks (range 21.0-33.4 weeks). Levels of circulating nt-proBNP were elevated in fetuses with cardiac defects (mean 6,896 ng/L (range 595-42,479 ng/L) vs. 1,867 ng/L (73-3,751 ng/L), p < 0.001). In the presence of abnormal Doppler indices a further increase was detected (mean 11,287 ng/L (range 1,403-42,479 ng/L) vs. 4,659 ng/L (595-30,848 ng/L), p = 0.021). No difference was found in fetuses with co-existing growth restriction. Malformations were classified according to their hemodynamic effect. Compared to shunt defects nt-proBNP concentrations were significantly higher in left or right ventricular outflow tract obstruction with intact ventricular septum (mean 15,639 ng/L (range 2,301-42,479 ng/L) vs. 3,891 ng/L (595-13,752 ng/L), p = 0.013), and corresponded to the degree of ventricular dysfunction. In the circulation of human fetuses with cardiac defects levels of circulating nt-proBNP are elevated. Concentrations correlate with the type of myocardial wall stress. This finding supports a role for nt-proBNP as early indicator of intrauterine cardiovascular dysfunction and cardiac remodeling.
Abstract: Fetal cardiac interventions are being performed with growing success by a minimally invasive percutaneous and transthoracic approach. The primary aim of these interventions is to minimise postnatal morbidity and mortality, rarely also to achieve intrauterine survival. Valvuloplasty in utero for severe aortic stenosis is performed in order to achieve sufficient growth of the left ventricle and to make a later biventricular repair possible. In rare cases with hydrops secondary to massive left ventricular dilatation and mitral insufficiency it is used as a salvage therapy. Premature obstruction of the foramen ovale can be treated by balloon atrioseptoplasty or stenting of the atrial septum with the aim to attain a decompression of the left atrium and consequently of the pulmonary veins. This might reduce the extent of pulmonary hypertension and the resulting vascular and parenchymal changes in affected infants. Intrauterine valvuloplasty of a highly stenotic pulmonary valve or a pulmonary atresia with intact ventricular septum in order to prevent hypoplasia of the right ventricle and to enable postnatal biventricular repair is only rarely justified. Currently these intrauterine cardiac interventions are limited to a small group of fetuses with cardiac defects. However, with enhanced imaging modalities and equipment and with growing experience, fetal cardiac interventions are likely to increase in the next years.
Abstract: The present article summarises current knowledge on the risk of fetal cardiac malformations in fetuses with increased nuchal translucency (NT), abnormal ductus venosus blood flow pattern and tricuspid regurgitation. The risk of congenital heart disease (CHD) increases with increasing NT. However, nuchal translucency screening is only modestly efficient in the detection of congenital heart disease in low-risk pregnancies. If the nuchal translucency is normal, abnormal ductus venosus blood flow and tricuspid regurgitation show low sensitivities as single screening parameters. The combination of all 3 markers might increase the detection rates. Fetal echocardiography at 20 weeks of gestation is recommended in foetuses with an NT ≥95th percentile, as the incidence of CHD increases 2.5-fold. When the NT measurement is ≥99th percentile, the risk of CHD increases 10-fold. In this high-risk group and in fetuses with tricuspid regurgitation and/or an abnormal DV flow pattern along with an increased NT, first or early second trimester echocardiography performed by experts is warranted. The early examination of the fetal heart should be completed by a detailed echocardiogram at around 20 weeks of gestation.
Abstract: Thanks to progress in cardiothoracic surgery, an increasing number of women with complex congenital heart diseases enter adulthood. Additionally, demographic and lifestyle changes result in the manifestation of acquired cardiac diseases during child-bearing years. Some 0.5-4% of all pregnancies occur in women with cardiovascular diseases. In the developed countries cardiovascular complications are the leading cause of maternal mortality. In pregnancies with cardiac conditions obstetric complication rates are raised. Up to 50% result in miscarriages or terminations; perinatal morbidity and mortality is increased. Contraceptive counselling should accordingly be offered to adolescents with congenital cardiac malformations and to patients with acquired cardiac diseases. Various contraceptive methods are available with different efficacies. International guidelines aid in the choice of the most appropriate method. Before contemplating pregnancy, preconception counselling by an interdisciplinary team should take place. This includes an assessment of the cardiac complication risk during pregnancy, delivery and post-partum. Cardiac function should be optimized and the medication evaluated with respect to teratogenicity. Special aspects of antenatal care, genetic factors of the cardiac disease and perinatal outcome should also be addressed. This review discusses the relevance of cardiovascular disease in the context of female reproduction. It presents currently available risk scores and the various topics to be covered in preconception counselling. This includes an overview of drugs commonly prescribed and genetic factors of congenital malformations. Furthermore, indications and contraindications of contraceptive methods are reviewed; this includes special aspects in the prescription of contraceptives for this particular group of women.
Abstract: The etiology of gastroschisis remains elusive. A classic twin study was used to assess the relative contribution of environmental and genetic factors in its development. Screening of 4872 twin pregnancies identified three unreported twin pairs comprising two monozygous and one dizygous discordant pair of twins. Review of the literature identified an additional 21 twin pairs. We observed lower pair- and proband-wise concordance rates for monozygotic compared to dizygotic twin pairs, pair- and proband-wise concordance ratios below 1.0. Our results suggest environmental to play a greater role than genetic factors in the development of gastroschisis.
Abstract: A 34-year old primipara was admitted to hospital with dichorionic-diamniotic twins in 26+3 weeks of gestation. In suspicion of HELLP-syndrome, caesarean section was performed at 27+4 weeks of gestation, because of platelet count was reduced to 44000/µl. A re-laparotomy had to be performed because of intra-abdominal bleedings. The patient was given seven packed thrombocytes and five packed erythrocytes. The patient complained about blurred vision. The right corner of the mouth was slightly depressed in terms of a facial nerve paresis. Further platelet counts were about 50000/µl. Haemoglobin: 7.8 mg/l. D-Dimer: 1066 mg/l. LDH was elevated to 1610 U/l, reticulocytes were elevated to 13.19% and haptoglobin was reduced to <0.08 g/l. The Coombs' test was negative. The ADAMTS-13 test showed a reduced activity. Hereby, the diagnoses of thrombotic thrombocytopenic purpura was confirmed. Plasma exchange is the most effective option; application of platelet concentrate should be avoided, because of worsening microangiopathy and subsequent neurological situation. After the patient has received plasma exchange, platelet count normalized. An ophthalmic examination showed a dysfunction in choroid perfusion as a cause for the blurred vision. After discharge regular lab tests were planned, but no further treatment was necessary at that point of time. The premature twins survived after ventricular haemorrhage, severe sepsis, bronchopulmonary dysplasia and other complications of neonates.
Abstract: Double inlet left ventricle as a rare cardiac malformation comprises a broad spectrum of anatomic variants making its correct antenatal diagnosis challenging. We report on echocardiographic findings of three fetuses found to have a less frequent morphologic subgroup of double inlet left ventricle, namely Holmes heart, characterized by a single (left) ventricle connected to both atrioventricular orifices and normally related arteries. We addressed the pre- and perinatal management as well as additional abnormalities and discussed our experiences together with what is known from current literature.
Abstract: N-terminal pro-B-type natriuretic peptide (ntproBNP) is an established marker of heart failure in adult cardiology. We analyzed nt-proBNP in the circulation of fetuses with increased volume load secondary to anemia and investigated the effect of treatment on nt-proBNP concentration.
Abstract: Purpose: To assess the total and procedure-related fetal loss rate and associated risk factors following amniocentesis (AC), chorionic villus sampling (CVS) and fetal blood sampling (FBS). Materials and Methods: We performed a retrospective analysis of patients with invasive diagnostics from 1993 to 2011 in two tertiary referral centers. We aimed to classify pregnancy loss after an invasive procedure and included the time after the invasive procedure and the result of targeted ultrasound/karyotype analysis in the analysis. Fetal losses occurring within two weeks after an invasive procedure were classified as procedure-related. Results: After excluding 1553 pregnancies with abnormal karyotype, fetal malformations and multiple insertions, 6256 cases were retrieved for final analysis. The total fetal loss rate was 1.5 %. The procedure-related fetal loss rate was 0.4 % for AC, 1.1 % for CVS and 0.4 % for FBS. Maternal vaginal bleeding in the first trimester was significantly associated with an increased procedure-related fetal loss rate (p= 0.008). The number of invasive procedures declined during the study period with increasing numbers of CVS in the first trimester. Conclusion: In our population the procedure-related fetal loss rate was 0.4 % after AC and 1.1 % and 0.4 % after CVS and FBS, respectively. Different gestational ages at the time of invasive procedures might account in part for those differences. Vaginal bleeding during the first trimester is associated with increased procedure-related fetal loss. Overall, declining numbers of invasive procedures are the result of changing attitudes toward invasive procedures and more sophisticated noninvasive prenatal screening programs over the last 20 years.
Abstract: Speckle tracking is a new ultrasound tool to assess 2D ventricular global and segmental myocardial velocity and deformation (strain, strain rate). Multiple factors such as fetal motion, high heart rates, low blood pressure, small size of the heart, physiological cardiac translation, filling and maturational changes of myocardium, polyhydramnion, maternal obesity and aortic pulsation can degrade the image quality and result in artifacts and measurement errors which may have an impact on the final analysis. Therefore deformation indices such as strain and strain rate offer a quantitative technique for the estimation of global and segmental myocardial function and contractility. At present longitudinal peak systolic strain is the most commonly applied deformation parameter used to analyse segmental and global myocardial contractility in adults. When obtained using Doppler methods, these measurements are angle dependent, whereas speckle tracking techniques overcome the limitations of Doppler echocardiography which is a particular advantage in foetal echocardiography. Nevertheless, the time and training necessary to acquire high-quality video clips limit the implementation of speckle tracking into clinical routine. It is not yet clear whether this new technique will identify subclinical myocardial impairment earlier than with current techniques or allow for better discrimination between healthy fetuses and fetuses with congenital heart disease. The clinical use of speckle tracking will have to be demonstrated in larger groups of complicated pregnancies.
Abstract: The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.
Abstract: To investigate fetomaternal hemorrhage (FMH) rate and quantity in the second trimester of pregnancies with fetal anomalies and to assess the impact of invasive prenatal and termination procedures.
Abstract: Purpose: To assess cardiac function with Speckle tracking in fetuses with twin-to-twin transfusion syndrome (TTTS) before and after laser therapy. Materials and Methods: A prospective case control study was conducted on 11 monochorionic diamniotic twin pairs with TTTS. Based on normal curves derived from healthy controls, global systolic longitudinal myocardial velocity, strain and strain rate values were transformed to z-scores. Results: Right and left ventricular systolic global strain (-27.45 % and -22.41 %) and strain rate (-4.13/sec and -3.27/sec) were reduced in recipients compared with normal values and all parameters tended to decrease even more after treatment (RV and LV: strain -23.79 % and -20.21 %; strain rate: -3.67/sec and -2.87/sec). The corresponding measurements in donor fetuses revealed no statistical difference compared to reference values. Conclusion: The global systolic myocardial function of donor twins before and after laser therapy was in the normal ranges. In contrast, recipient twins exhibited global cardiac dysfunction with decreased pre- and postoperative strain and strain rate. Speckle tracking can identify compromised ventricular myocardial function in fetuses with TTTS.
Abstract: In order to further define the challenges, minimally invasive fetal surgery will have to overcome human fetuses with gastroschisis. The purpose of this study was to compare macroscopic and histopathologic characteristics of experimental laparoschisis in sheep fetuses with actual cases of gastroschisis from a postmortem series of human fetuses.
Abstract: Fryns anophthalmia-plus syndrome is a very rare condition initially described by Fryns and colleagues in 1995 in a pair of siblings of nonconsanguineous parents. Since that time, only a few cases have been reported, most of them in newborns and young children. Clinical presentation is variable and includes anophthalmia/microphthalmia, cleft lip/palate, and other facial deformities. Furthermore, skeletal, central nervous system, and endocrine anomalies have been described. We report the case of a male fetus of 18 weeks of gestation with normal karyotype and findings matching Fryns anophthalmia-plus syndrome. Pregnancy was terminated because of sonographically proven facial midline defects and a marked cerebral ventriculomegaly. Macroscopic and histological findings obtained at autopsy showed extreme bilateral microphthalmia, unilateral cleft palate, unilateral nasal deformity, and low-set ears. Skeletal anomalies included 13 pairs of ribs, premature ossification of the calcaneus, and talipes.
Abstract: To compare the feature tracking derived measurements of the right (RV) and left ventricular (LV) myocardium in healthy fetuses and evaluate the correlation with advancing pregnancy.
Abstract: Ebstein's anomaly and absent pulmonary valve syndrome belong to the rarest congenital heart defects. Their association has never been reported so far. We present the unusual case of a fetus at 23 weeks of gestation with Ebstein's anomaly, tetralogy of Fallot, absent pulmonary valve and agenesis of the arterial duct. The main diagnostic features were apical displacement of the septal leaflet of the tricuspid valve with an offset from the mitral valve of 8 mm, a pronounced atrialization of the right ventricle, a large malalignment ventricular septal defect with overriding aorta in combination with absence of the pulmonary valve leaflets, to and fro flow pattern over the stenotic pulmonary valve annulus, turbulent flow in the pulmonary trunk, massive dilatation of the pulmonary trunk plus the pulmonary arteries and a right aortic arch with retroesophageal course of an aberrant left subclavian artery. The arterial duct and the thymus were absent. The remaining fetal anatomy was unremarkable. Amniocentesis revealed a normal male karyotype; 22q11 microdeletion was ruled out. After being counseled on the unfavorable prognosis, the parents opted for termination of pregnancy. The prenatal cardiac findings were confirmed at autopsy; however, a severely hypoplastic thymus was found instead of the suspected aplasia.
Abstract: The aim of this study is to evaluate the cumulative detection rate of foetal echocardiography during gestation and in the early neonatal period, with a special emphasis on early foetal echocardiography.
Abstract: To evaluate the correlation between feature tracking-derived measurements of the right ventricular myocardium and gestational age in healthy fetuses.
Abstract: PURPOSE: The aim of this study was to evaluate the prevalence of an aberrant right subclavian artery (ARSA) in a mixed-risk population in the second trimester and to assess its potential as a new soft marker in the genetic scan. MATERIALS AND METHODS: Fetal echocardiography was performed prospectively in 1337 fetuses at 16 - 28 weeks of gestation during a 12-month period at two referral centers for prenatal diagnosis. The presence of ARSA was verified by visualization of the transverse 3-vessel trachea view with color Doppler sonography. RESULTS: The total rate of fetuses with an ARSA was 1.05 % (14 / 1337). The spectrum of associated findings in affected fetuses included: one trisomy 21, one unbalanced inversion of chromosome 9, one triploidy and two non-chromosomally related structural defects. Nine fetuses had no anomalies. The calculated odds ratio for the presence of an ARSA in the case of Down syndrome compared with healthy fetuses was 12.6 (95 % CI, 1.93 - 86.10). CONCLUSION: The presence of an ARSA is more common in fetuses with trisomy 21 and other chromosomal defects than in healthy fetuses. Although it can be considered as a weak marker, the second trimester diagnosis of an ARSA should prompt a detailed search for additional "soft markers" and structural defects.
Abstract: The aim of this study was the follow-up of children with a prenatal diagnosis of tachyarrhythmia up to an age of 5 years in order to assess the long-term outcome of these children.
Abstract: In addition to general pathological findings characteristic of Goldenhar's syndrome, we report ocular findings in a 22-week-old fetus with hemifacial microsomia, endorsing this diagnosis. After abortion the fetus was examined via a standard paidopathological autopsy including ophthalmopathologic macroscopic and microscopic examination of both eyes. Postmortem findings included left hemifacial microsomia with ipsilateral microtia, atresia of the acoustic meatus, microphthalmia, a ventricular septal defect, and abnormalities of the ribs. Ophthalmopathological examination of the affected microphthalmic eye revealed a scleral choristoma (cartilage), choroidal/retinal pigment epithelium coloboma, and staphyloma. General pathology findings plus the ocular findings allowed the diagnosis of Goldenhar's syndrome. The cartilaginous choristoma present in the patient has previously not been reported in association with this syndrome. A discussion of differential diagnoses is provided, confirming that the ophthalmopathological investigation of fetal eyes can be of great value for classifying syndromes associated with microphthalmia.
Abstract: Predominant left heart hypoplasia is commonly observed in human fetuses with left diaphragmatic hernia and intrathoracic liver herniation ("liver-up"). In contrast, marked left/right heart disproportion has not been described in fetuses with right diaphragmatic hernia, despite intrathoracic herniation of large parts of the liver.
Abstract: Left heart hypoplasia is commonly observed in fetuses with left diaphragmatic hernia. Because in this condition intrathoracic herniation of the liver serves as an important predictor for postnatal disease severity, we studied its potential association with left heart hypoplasia.
Abstract: To assess the spectrum of underlying diseases in cases of fetal anemia in which the cause was unknown at the time of first and second transfusion or thereafter.
Abstract: Preferential left heart underdevelopment in human fetuses with diaphragmatic hernia is almost uniformly associated with preferential streaming of the ductus venosus toward the right side of the heart. The purpose of our study was to examine whether this flow anomaly might also be present in other fetuses with hypoplasia of left-sided cardiovascular structures.
Abstract: To elaborate the antenatal sonographic findings of fetuses with the suspicion of fetal akinesia, thereby focusing on the accuracy of prenatal differentiation between subtypes of fetal akinesia, namely Pena-Shokeir phenotype (PSP) and arthrogryposis multiplex congenita (AMC).
Abstract: To review the current literature on first-trimester screening with respect to specific issues for assisted reproductive technologies (ARTs) singleton and twin pregnancies.
Abstract: To construct reference ranges of uterine artery Doppler parameters against gestation in twin pregnancies and to present charts of the pulsatility index (PI) and resistance index (RI) for clinical use.
Abstract: To investigate the incidence and clinical impact of prenatally diagnosed persistent right umbilical vein (PRUV) in a referral population and to evaluate the findings together with those from previous publications.
Abstract: PURPOSE: The aim of this study was to evaluate the correlation of feature-tracking-derived measurements of the left ventricular myocardium in healthy fetuses with gestational age. MATERIALS AND METHODS: The global and segmental longitudinal peak systolic strain, strain rate and velocity values of the left ventricular myocardium for each gestational age were assessed by a novel feature tracking technique in 150 healthy fetuses (gestational age range 13 - 39 weeks of gestation). The interobserver and intraobserver variability was analyzed. RESULTS: The global longitudinal peak systolic velocity exhibited a segmental base to apex gradient (p < 0.001). From 13 to 39 weeks of gestation, the global and segmental longitudinal peak systolic velocities increased significantly throughout gestation (p < 0.001), while the global longitudinal peak systolic strain remained constant (p = 0.34) and the strain rate exhibited only a tendency to decrease (p = 0.045). The interobserver and intraobserver variability of the global LV peak systolic strain, strain rate and velocity was acceptable. The standard deviations of measurement error between the two observers were 2.5 %, 0.7 s (-1) and 0.5 cm/sec, respectively. CONCLUSION: The global myocardial peak systolic velocities of the left ventricle increase with gestational age, while the global myocardial peak systolic strain and strain rate remained nearly constant throughout gestation. This novel angle-independent, noninvasive technique offers a new objective approach to quantify global and segmental fetal myocardial performance throughout gestation.
Abstract: The development of an acardiac twin in a monochorionic multiple pregnancy is a rare and severe complication of abnormal placental vascular anastomoses. These malformed fetuses present with a very bizarre morphology and a plethora of different malformations. However, all acardiac twins show either a complete absence or an anlage of the heart. Cerebral development is usually poor. We report, according to our review of the literature, for the first time, a very unusual case of acardius with features of acardius amorphus and acormus (fused head and malformed axial skeleton without macroscopically detectable internal organs) with lobar holoprosencephaly and intracerebral pigmented retina-like tissue.
Abstract: To study if the duration of individual Doppler abnormalities is an independent predictor of adverse outcome in fetal growth restriction (FGR) caused by placental dysfunction.
Abstract: Left heart underdevelopment is commonly observed in fetuses with left diaphragmatic hernia. This finding has been attributed to compression of the left atrium by herniated abdominal organs, redistribution of fetal cardiac output and/or low pulmonary venous return. As preferential right or left heart underdevelopment is usually not a feature of right diaphragmatic hernia, we searched for an alternative mechanism. Since in normal fetuses the major fraction of left heart filling is provided by the ductus venosus via the inferior caval vein and oval foramen, our study focused in particular on the streaming direction of these structures.
Abstract: To investigate the impact of the a priori attitude, nondirective counselling and targeted second trimester ultrasound examination on the decision process concerning invasive prenatal diagnosis in the second trimester.
Abstract: The extremely rare syndrome including absent pulmonary valve associated with membranous tricuspid atresia or severe tricuspid stenosis, intact ventricular septum and patent ductus arteriosus has been reported sporadically in the postnatal literature. This cardiac defect is characterized by right ventricular dysplasia with asymmetrical ventricular septal hypertrophy, ventricular septum bulging into the left ventricle, small right ventricular cavity, membranous tricuspid atresia or severe stenosis with abnormal papillary muscles and leaflets and absence of the pulmonary valve leaflets. The only prenatal case reported so far was diagnosed at 33 weeks of gestation and terminated shortly thereafter; the natural history of prenatally diagnosed cases is therefore unknown. We report on the intrauterine course of a case diagnosed at 17 weeks of gestation that had a favorable postnatal outcome after palliation.
Abstract: Our purpose was to assess the impact of prenatally diagnosed ventriculomegaly (VM) on the course of advancing pregnancy and the postnatal outcome of affected fetuses.
Abstract: Fetoscopic laser photocoagulation (FLP) has become standard therapy for severe twin-twin transfusion syndrome. Data on adverse maternal events are rare. We performed a literature review to obtain data on maternal complications of FLP.
Abstract: To investigate the performance of nuchal fold thickness, nasal bone hypoplasia, reversed flow in the ductus venosus and tricuspid valve regurgitation in the prediction of fetal aneuploidies in the early second trimester.
Abstract: Partial amniotic carbon dioxide insufflation (PACI) during fetoscopic interventions greatly improves visualization of intraamniotic contents. The purpose of this study was to assess any histologically discernable effects from this approach on the fetal brain after long-term survival in sheep.
Abstract: First-trimester serum markers in 110 in-vitro fertilization (IVF) and 331 intracytoplasmatic sperm injection (ICSI) pregnancies were compared with 1431 pregnancies with spontaneous conception. Alterations of serum markers were evaluated with respect to small-for-gestational-age (SGA) growth and number of embryos transferred. For pregnancy-associated plasma protein A (PAPP-A), significantly lower concentrations were observed in IVF and ICSI pregnancies compared with controls (0.86 and 0.9 versus 1.06; P<0.001). Free beta-human chorionic gonadotrophin (betaHCG) values were significantly higher in the IVF/ICSI groups than in controls (1.1 and 1.1 versus 0.94; P<0.005). IVF and ICSI pregnancies showed higher rates of SGA (10.0% and 8.2%) compared with natural conception (4.6%), but differences in PAPP-A concentrations remained significant (P<0.005) after the exclusion of SGA pregnancies. No relationship between serum values and the transfer of one, two or three embryos was observed. Centre-specific corrections may be needed to adjust screening parameters for assisted reproductive technology.
Abstract: BACKGROUND: The purpose of our study was to evaluate the maternal cardiopulmonary function and lung water content during percutaneous fetoscopic interventions under general maternal-fetal anaesthesia and continuous tocolytic medication. METHODS: We prospectively studied 13 women between 19 and 30 weeks of gestation undergoing percutaneous fetoscopic procedures that were performed under general maternal-fetal anaesthesia and tocolysis using indomethacin. Invasive haemodynamic monitoring using pulmonary artery catheters and the transpulmonary indicator dilution technique was applied to determine intrathoracic blood volume (ITBV), cardiac output, and extravascular lung water (EVLW). Pulmonary vascular permeability was estimated as the ratio of EVLW/ITBV. Measurements were performed during and for 24 h after the interventions. RESULTS: Respective mean (SD) maternal ITBV and cardiac output were 894 (191) ml min(-1) m(-2) and 3.29 (0.51) litre(-1) min(-1) m(-2) intraoperatively, and 843 (169) ml min(-1) m(-2) and 4.47 (0.55) litre min(-1) m(-2) during the first postoperative day. EVLW was 7.9 (2.7) ml kg(-1) during the interventions and 7.7 (1.8) ml kg(-1) during the first postoperative day. The pulmonary vascular permeability index was calculated as 0.35 (0.06) during the interventions and 0.38 (0.14) for the first postoperative day. Clinically overt pulmonary oedema was not detected in any woman while pulmonary gas exchange remained normal. CONCLUSIONS: In mid-gestational women undergoing percutaneous fetoscopic interventions under general maternal-fetal anaesthesia, cardiopulmonary function remained stable. However, a moderate increase in EVLW and pulmonary vascular permeability indicates an increased risk for maternal pulmonary oedema.
Abstract: Gastroschisis is a malformation of the anterior abdominal wall that consists of a right paraumbilical defect with bowel loops bathed in the amniotic fluid. The prognosis relies mainly on morbidity attributable to intrauterine bowel loss or postpartum bowel dysfunction. The purpose of this study was to evaluate a potential role for fetoscopic surgery in severely affected fetuses with this condition.
Abstract: OBJECTIVE: To alleviate congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia by percutaneous minimally-invasive fetoscopic tracheal decompression using laser. METHODS: The procedure was performed via one trocar under general maternofetal anesthesia in a human fetus with CHAOS from laryngeal atresia at 21+6 weeks of gestation. RESULTS: Normalization of the lung-heart size relationship was observed within days after the procedure. The fetus was delivered by ex utero intrapartum treatment (EXIT) in order to perform a tracheotomy at 31+1 weeks of gestation and survived hospital treatment to discharge. CONCLUSIONS: Percutaneous minimally-invasive fetoscopic decompression of the fetal trachea via a single trocar is feasible in human fetuses with CHAOS from laryngeal atresia.
Abstract: Pregnancy after complete loss of pituitary function is uncommon. However, advances in fertility treatment have led to increased pregnancy rates in hypopituitary women. We hereby present a literature review of pregnancies affected by hypopituitarism, including a comparison with published controls; further, we add one case report of severe hypopituitarism where third-trimester oxytocin supplementation was performed. As only limited information is available on management and outcome, our purpose was to determine obstetric complications associated with deficiency of pituitary hormones. The analysis of 31 pregnancies in 27 women revealed that hypopituitary women are at increased risk: postpartum hemorrhage occurred in 8.7%, transverse lie in 16%; 42.4% of the newborns were small for gestational age. These findings are supposedly the result of uterine dysfunction caused by hormone deficiency. Oxytocin supplementation was performed with the aim to establish physiologic conditions and to prevent postpartum uterine inertia. In this case substitution may have contributed to correct fetal presentation but did not prevent postpartum hemorrhage. Further investigations into both oxytocin-dependent and -independent mechanisms regulating uterine contractions and contractility are necessary to develop strategies for prevention of uterine inertia in oxytocin-deficient pregnancies.
Abstract: BACKGROUND: Preterm premature rupture of membranes before 22 weeks of gestation may result in severe fetal pulmonary hypoplasia. Fetoscopic tracheal balloon occlusion might result in catch-up pulmonary growth. CASE: After preterm premature rupture of membranes at 16 weeks of gestation, magnetic resonance imaging at 26 0/7 weeks showed a fetal lung volume of 13 mL and pulmonary blood flow hardly could be detected. Fetoscopic tracheal balloon occlusion was performed at 27 6/7 weeks; within 6 days, fetal lung volume increased to 70 mL and lung blood flow normalized. The fetus was delivered electively at 28 6/7 weeks. Six hours after delivery, the neonate required only 21% oxygen and was extubated after 55 hours. CONCLUSION: Short-term fetoscopic tracheal balloon occlusion may result in rapid normalization of fetal lung volume and blood flow in fetuses with life-threatening pulmonary hypoplasia from preterm premature rupture of membranes before 22 weeks of gestation.
Abstract: PURPOSE: To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency with respect to fetal loss, structural defects genetic syndromes, and neurological outcome. MATERIALS AND METHODS: Retrospective analysis and telephone interview. All included pregnancies underwent a mid-trimester anomaly scan. RESULTS: 279 pregnancies were included. The overall live birth rate was 81.4 %, and decreased as the NT measurement increased. The most common structural defect was cardiac anomalies (7 %). If the second-trimester anomaly scan was uneventful, the chance of a healthy live birth was 92 %. The number of unexpected neurodevelopmental delays after a normal scan during mid-trimester was 1.1 %. CONCLUSION: Counseling should emphasize that if the karyotype is normal and no fetal structural malformations were missed prenatally after resolution of nuchal thickening, the prognosis is positive.
Abstract: OBJECTIVES: To assess changes in the Doppler flow profiles of the middle cerebral artery in fetuses with cardiac defects theoretically associated with impaired cerebral oxygen delivery in utero. METHODS: Z-scores were calculated for pulsatility and resistance indices (PI and RI, respectively) of the middle cerebral artery (MCA) and the cerebroplacental ratio (CPR) between 19 and 41 weeks' gestation, and for head circumference at birth (HC), in 113 fetuses with the following isolated cardiac defects: transposition of the great arteries (TGA; n = 18), hypoplastic left heart (HLH; n = 46), severe aortic stenosis (n = 17), pulmonary atresia (n = 18) and tetralogy of Fallot (TOF; n = 14). Pregnancies with uteroplacental dysfunction (indicated by increased uterine and/or umbilical Doppler indices), growth restriction, extracardiac malformations, chromosomal anomalies as well as multiple pregnancies were excluded to avoid any additional hypoxemic effect as strictly as possible. The results were compared with 1378 normal controls. RESULTS: Fetuses with pulmonary atresia, severe aortic stenosis and TOF had no significant alterations of Doppler parameters or HC at birth. In fetuses with TGA, mean Z-scores of HC at birth were significantly smaller compared with controls (mean +/- SD, -0.73 +/- 1.25; P < 0.05), but there was no significant difference in the Doppler parameters. Fetuses with HLH had significantly lower MCA-PI (-0.57 +/- 0.74; P < 0.05), MCA-RI (-0.73 +/- 0.85; P < 0.05), CPR (-1.44 +/- 1.05; P < 0.05) and HC (-0.50 +/- 1.24; P < 0.05) Z-scores compared with controls. CONCLUSIONS: Fetuses with cardiac defects theoretically associated with markedly impaired cerebral oxygen delivery in utero (TGA and HLH) have smaller HCs at birth. However, only fetuses with HLH have cerebrovascular alterations that are detectable by evaluation of the Doppler indices MCA-PI, MCA-RI and CPR.
Abstract: Combined pulmonary and aortic valvar stenosis is an extremely rare congenital anomaly. Fetuses and neonates with critical pulmonary valve stenosis or atresia and intact ventricular septum may present with varying degrees of abnormalities of the right ventricle, tricuspid valve, and coronary arteries, but combination of right and left ventricular outflow tract obstruction is hardly ever seen. Until bilateral balloon valvuloplasty had been established in the neonate, the only therapeutic option was the surgical relief of right and left ventricular obstruction. We highlight the essentials of perinatal management in cases with severe bilateral valvar obstruction and provide a guideline for sequential interventional therapy of this rare lesion.
Abstract: BACKGROUND: Meconium peritonitis (MP) is a rare prenatal condition that leads to substantial neonatal morbidity and mortality. PATIENTS AND METHODS: All patients between 1998 and 2006 referred for prenatal diagnosis were retrospectively analyzed for diagnosis of MP. Prenatal ultrasound findings were compared with postnatal etiology, intraoperative findings, and postnatal outcome of the patients. RESULTS: Antenatal MP was diagnosed in 14 fetuses between 18 and 38 weeks' gestation. The prenatal diagnosis of MP was confirmed by clinical and radiological findings in 8 (62%) of 13 infants born alive. All patients were delivered preterm between 33 and 36 weeks' gestation by cesarean section. Urgent neonatal surgery for treatment of bowel obstruction was required in all eight infants. Prenatal ultrasound diagnosis of bowel dilatation was the only variable found to be associated with the need for subsequent surgical intervention (P=0.02). CONCLUSIONS: Clinical outcome of MP diagnosed antenatally can be either mild or severe form. The underlying cause of severe MP is heterogeneous and neonatal surgery was always required.
Abstract: PURPOSE: The aim of this study was the follow-up of children with a prenatal diagnosis of supraventricular extrasystole (SVES) up to an age of 5 years in order to assess the long term outcome of these children and in order to characterize factors influencing the outcome. MATERIALS AND METHOD: All fetuses diagnosed with prenatal SVES between April 1993 and August 2005 were identified and the children's parents and pediatricians contacted for data regarding the children's health. Follow-up data about the children's health up to the age of 5 years could be obtained in 77 (46.1%) children. RESULTS: 0.5% (167/34,770) of all fetuses were diagnosed with prenatal SVES. In 70% of cases the SVES resolved before or at birth. 30% of children presented with arrhythmia postpartum. 31% of children were diagnosed with cardiac anomalies postpartum. 87% of children were healthy at the age of 2 - 5 years. In the subgroup of children with isolated fetal SVES without further anomalies, 95% of children were healthy at the age of 2 - 5 years. In children with persisting arrhythmia and in children with cardiac anomalies, the prognosis was worse. CONCLUSIONS: Overall, by the long-term follow-up of 77 children with prenatal SVES we could show that prenatal SVES has a good prognosis. However, 30% of children develop arrhythmia postpartum and 31% of children present with cardiac anomalies. These children still have a worse prognosis than children with isolated prenatal SVES.
Abstract: This review describes the recent advances in terms of visualization and diagnosis of first and early second trimester fetal echocardiography.
Abstract: BACKGROUND: The technical performance of minimally invasive fetoscopic surgery may be severely hindered by poor visualization of intra-amniotic contents. Partial amniotic carbon dioxide insufflation (PACI) allows the visual limitations of operating within the fluid environment to be overcome. PATIENTS AND METHODS: When amniotic fluid exchange failed to improve fetoscopic visualization, PACI was attempted during 37 fetoscopic procedures between 17 + 5 and 33 + 2 weeks of gestation. PACI was attempted with filtered carbon dioxide using a commercially available insufflator via one to three trocars that were percutaneously introduced into the amniotic cavity. The maximum pressure during PACI was limited by the maximum insufflation pressure (30 mmHg) generated by the insufflator. Improvement of fetoscopic visualization as well as technical, maternal, and fetal safety aspects surrounding PACI were analyzed. RESULTS: PACI could successfully be instituted in 36 of the 37 procedures. In one case, when in the presence of increased uterine tone the opening pressure exceeded the maximum insufflation pressure of the insufflator, the strategy was abandoned. In all cases where PACI could be instituted successfully, the approach offered far superior visualization of the fetoscopic procedure than would have been possible within amniotic fluid. Acute or chronic maternal or fetal complications were observed in only one case (intraoperative membrane rupture). CONCLUSION: PACI greatly improves fetal visualization during fetoscopic interventions when fetoscopy within fluid meets with difficulties. Continued assessment of its benefits, risks, and safety margins at specialist centers is required.
Abstract: BACKGROUND: A percutaneous minimally invasive fetoscopic approach was attempted for closure of a spina bifida aperta in two fetuses with L5 lesions. The goal was to obviate the need for postnatal neurosurgery to manage this condition. METHODS AND RESULTS: The percutaneous fetoscopic procedures were performed by a two-layer approach at respectively 22+/-2 and 22+/-4 weeks of gestation. The fetuses were delivered respectively at 32+/-6 and 32+3 weeks of gestation. Their neural cords were completely covered although in small areas skin closure was incomplete. Postnatally, complete skin closure occurred beneath an occlusive draping within 2 to 3 weeks such that neurosurgical intervention was not required. Both neonates showed reversal of hindbrain herniation, near-normal leg function, and satisfactory bladder and bowel function. For one of the two fetuses, ventriculoperitoneal shunt insertion was not required. CONCLUSIONS: Percutaneous minimally invasive fetoscopic patch closure of spina bifida aperta offers a substantially less maternal trauma than open fetal surgical repair and currently may even obviate the need for postnatal neurosurgical repair. With a little further improvement in surgical techniques and a better understanding of incorporating surgical patches into the fetus, complete skin closure seems possible in the near future.
Abstract: PURPOSE: To evaluate the associated conditions and the outcome of atrioventricular septal defects (AVSD) detected in fetal life. MATERIALS AND METHODS: Retrospective review of all cases of AVSD detected prenatally between 1998 and 2006 in two tertiary referral centers in Germany. RESULTS: 246 cases of AVSD were detected in the study period: 129 (52.4 %) chromosomal anomalies; 72 (29.3 %) heterotaxy syndromes; 17 (6.9 %) non-chromosomal malformation syndromes; 16 (6.5 %) isolated complex cardiac malformations; 5 (2.0 %) singular extracardiac malformations; 7 (2.8 %) isolated AVSD. Chromosomal anomalies were detected significantly earlier in pregnancy (p < 0.01). Associated intracardiac malformations were present in 109/246 (44.3 %) cases. Fetuses with trisomy 21 were significantly associated with balanced ventricular morphology and isolated AVSD (p < 0.01). Among the 246 cases, 144 (58.5 %) underwent termination of pregnancy, 18 (7.3 %) died in utero, 17 (6.9 %) in the neonatal period and 19 (7.7 %) in infancy. Forty-eight children (19.5 %) survived with a mean follow-up of 34.94 +/- 18.6 months. After exclusion of lethal malformations, the survival rate among live births was 64.9 % (48 / 74). Fetuses with trisomy 21 had significantly better survival rates among continued pregnancies (p < 0.01) and significantly higher rates of successful biventricular repair among survivors who received their final corrective procedure (p < 0.01) than fetuses with normal karyotypes. CONCLUSION: Among fetuses with AVSD, those with trisomy 21 are detected earlier in pregnancy, have less distorted cardiac anatomy, higher rates of biventricular repair and better survival rates. Due to the limited sample size in euploid fetuses, it remains unclear whether this apparent protection afforded to Down syndrome accounts also for cohorts with isolated and balanced AVSD.
Abstract: PURPOSE: Placenta ac-, in-, percreta is rare, but associated with high maternal morbidity. We report the results of diagnosis and management of patients with this condition at our institution. Serial color Doppler examinations were performed to investigate the pattern and duration of perfusion to abnormally adherent placenta after conservative treatment. The influence of these results on management decisions was evaluated. MATERIALS AND METHODS: Women with placenta ac-, in-, percreta delivering within a three-year interval were included. Diagnosis was established by ultrasound, color Doppler, MRI, and histology specimen. B-mode ultrasound and color Doppler were applied post-operatively. RESULTS: Fifteen cases of placenta ac-, in-, percreta occurred (0.29% of deliveries). 73.3% were associated with placenta previa, 66.6% had > or = 1 previous uterine surgery. Abnormal placentation was diagnosed antenatally in 5/15 cases; in these women complication rate (0/5 vs. 8/10, p = 0.12) and blood loss was significantly lower (mean 1.140 vs. 3.080 ml, p < 0.01). 8/15 women underwent Cesarean hysterectomy, 2 after embolization of uterine arteries. 7/15 women had conservative management. In 3 of these cases complete removal of the placenta was achieved; in the remaining 4 the entire (n = 2) or parts (n = 2) of the placenta were left in place, methotrexate was administered postoperatively, and close clinical and laboratory controls were performed. Serial color Doppler examinations revealed cessation of blood flow to the adherent tissue 9 - 13 weeks postoperatively, followed by complete resorption (n = 1)/expulsion (n = 1) of placental fragments. In two cases (placenta previa percreta) curettage was performed without major complications after negative blood flow. CONCLUSION: The high maternal morbidity of placenta ac-, in-, percreta can be reduced with antenatal diagnosis and elective delivery. Conservative management of placenta percreta may be considered in selected cases, with embolization and/or methotrexate as an adjuvant therapy. Serial examinations of the perfusion in the retained placental tissue allow conclusions about the degree of involution and aid in determining the appropriate timing of curettage if necessary.
Abstract: PURPOSE: To report the course and outcome of a group of fetuses with prenatal suspicion of coarctation of the aorta. MATERIALS AND METHODS: Retrospective observational study in two tertiary fetal cardiology centers between 1993 - 2005. RESULTS: 96 fetuses of whom 52 infants were born alive were studied. Of the 52 liveborn infants, 34 had coarctation of the aorta (65.4 %), thirteen had prenatally diagnosed additional cardiac anomalies (VSD, ASD, aortic and pulmonary stenosis, persistent left superior vena cava) and three were managed as having hypoplastic left heart syndrome. Three neonates had additional extracardiac malformations diagnosed prenatally. 22 neonates underwent surgery, nineteen within the first ten days of life. One neonate only developed clinical signs of coarctation on the fourteenth day of life. The early surgical mortality was three of 22 (13.6 %). The mortality was influenced by prematurity. The survival rate on the basis of intention-to-treat was twenty-nine of 34 neonates with confirmed coarctation (85.3 %). CONCLUSION: Coarctation of aorta during fetal life continues to be a difficult diagnosis. The potential of progressive hypoplasia of left heart structures during gestation in the case of fetal aortic isthmus stenosis with the development of a hypoplastic left heart should be kept in mind and therefore sequential echo-cardiography is recommended during gestation.
Abstract: OBJECTIVE: To describe the spectrum of prenatally diagnosed fetal tumors, and the course and fetal outcome in affected pregnancies. METHODS: This was a retrospective study in two German tertiary referral centers of 84 fetuses with tumors diagnosed in the prenatal period. The tumors were classified according to their location and histology. RESULTS: The most common site of origin was the heart (20/84, 23.8%), followed by the face and neck region (19/84, 22.6%) and the abdomen (16/84, 19%). Lymphangiomas (21/84, 25%) and rhabdomyomas (19/84, 22.6%) comprised half of the tumor histology. Less frequently, teratomas (14/84, 16.6%) and hemangiomas (12/84, 14.2%) were seen. Complications included arrhythmia in cases with rhabdomyoma (8/19, 42%) and signs of heart failure in cases with hemangioma (4/12, 33%) and teratoma (4/14, 28.6%). The overall survival rate was 75%. Cases with either a histological diagnosis of teratoma or tumor located in the brain had the worst prognosis. CONCLUSION: The combination of sonographic features and their location allows reliable prediction of the histological type in the vast majority of fetal tumors. Malignancy, associated malformations and aneuploidy are observed infrequently. Knowledge of the presence of a fetal tumor facilitates close surveillance by a specialized team, which might lead to early recognition of problems and improve perinatal outcome.
Abstract: Here we present the case of a 30-year-old woman with type I diabetes mellitus, preeclampsia and treatment resistant persistent hyperemesis gravidarum in her 25th week of gestation who was successfully treated with the antidepressant mirtazapine (Remergil). Nausea and vomiting resolved within 5 days. After discharge from the hospital in 28 weeks of gestation and discontinuation of the medication on her own initiative a relapse occurred, once again with good response to mirtazapine. The drug was continued until birth. At 34 + 0 weeks a cesarean section was performed due to fetal growth restriction and deteriorating preeclampsia. During the second and fourth day postnatal age the child temporarily developed hyperarousal which could be explained by mirtazapine withdrawal.
Abstract: OBJECTIVE: The purpose of this study was to test the hypothesis that multivessel fetal Doppler imaging provides enhanced prediction of necrotizing enterocolitis (NEC) in preterm placental insufficiency. STUDY DESIGN: Placental-based growth-restricted fetuses (abdominal circumference <5%, abnormal umbilical artery [UA] Doppler imaging) were examined. UA, middle cerebral artery, ductus venosus, and umbilical vein (UV) were evaluated prenatally and were assessed for their ability to predict NEC in neonates who were delivered at <37 weeks of gestation. RESULTS: Thirty-nine of 404 neonates (9.7%) experienced NEC. Among these, the mortality rate was 15.4% (6/39 neonates; odds ratio, 2.7; 95% CI, 1.03-7.11). NEC cases had higher UA Doppler indices prenatally (P = .023), lower gestational ages and birthweight at delivery (P < .0001, respectively), 5-minute Apgar scores of <7, and higher umbilical cord artery base deficit (P < .01, respectively). NEC was more likely after prenatal UV pulsations (odds ratio, 2.4; 95% CI, 1.13-5.14; P = .028) and severe cardiovascular abnormality (composite variable incorporating UA- absent or reversed end diastolic velocity, absent or reversed ductus venosus a-wave, or UV pulsations; odds ratio, 2.1; 95% CI, 1.06-4.05; P = .029) Logistic regression revealed birthweight and base deficit as the main contributors of NEC (r(2) = 0.20; P < .0001). Receiver operating characteristic analyses revealed birthweight of <790 g (sensitivity, 74.4%; specificity, 72.9%; P < .0001) and gestational age of < or =32.2 weeks (sensitivity, 94.9%; specificity, 45.8%; P < .0001) as optimal cut-offs that provide an odds ratio for NEC of 8.2 (95% CI, 3.9-17.6; P < .0001). CONCLUSION: Placental disease predisposes the severely growth-restricted neonate to necrotizing enterocolitis. Even when arterial and venous Doppler variables are taken into consideration, birthweight remains the predominant risk factor for NEC. Further research should focus on the critical transition to neonatal life to identify relevant triggers in predisposed neonates.
Abstract: OBJECTIVE: We examined pregnant women's expectations concerning their unborn babies prior to prenatal diagnosis and also the possible correlations with emotional characteristics such as anxiety and depression. METHODS: The consecutive sampling consisted of 324 pregnant women presenting themselves between the 11th and 29th weeks of pregnancy for detection of foetal anomalies. The pregnant women noted their thoughts and expectations concerning their unborn using a choice of 18 adjectives in a 5-point Likert scale in a standardized questionnaire. Anxiety was recorded with the State-Trait Anxiety Inventory and depression with a depression scale. RESULTS: By means of factor analysis (analysis of the main components by varimax rotation), it was possible to determine 4 factors (inherent value criterion >1) from the 18 items (adjectives). Those 4 factors indicate a total of 58.3% of the variance. The first factor scale, well-being, is characterized by 4 items, 'happy', 'glad', 'carefree' and 'light-hearted'. The second factor scale, nervous, is identified mainly by the items 'fidgety', 'excitable', 'restless' and 'excited'. The third factor scale, passive, is marked by the items 'anxious', 'disheartened' and 'sleepy'. The fourth factor scale, vulnerable, is indicated by 3 items, 'in need of protection', 'vulnerable' and 'clinging'. Scales 1, 2 and 3 gave evidence of significant correlations with trait intensity in the state and trait anxiety scale and in the scale for the assessment of depressive mood prior to prenatal diagnosis and state anxiety after prenatal diagnosis. CONCLUSION: The individual characteristics and attributes of the unborn child are differentiated prior to prenatal diagnosis. There is most certainly a link between the well-being of the pregnant woman and the effect it has on the emotional characteristics of her unborn child.
Abstract: We report the sonographic and autopsy findings in two sibling fetuses with autosomal recessive orofaciodigital syndrome (OFDS) Type IV (Mohr-Majewski) diagnosed at 11-13 weeks' gestation. The first-trimester anomaly scan showed a markedly increased nuchal translucency (NT) thickness in both fetuses (4.7 mm and 5.1 mm). Both fetuses had multiple anomalies involving the brain, cranium, heart and skeletal system and their karyotypes were normal. The pregnancies were terminated and the autopsies showed findings consistent with Mohr-Majewski syndrome. These cases show the overlap between OFDS Type II (Mohr) and lethal short-rib-polydactyly syndrome Type II (Majewski) and confirm both the autosomal recessive inheritance of the condition and our ability to diagnose it early in pregnancy using detailed fetal ultrasonography.
Abstract: OBJECTIVE: To identify the sequence of progression of arterial and venous Doppler abnormalities from the onset of placental insufficiency in intrauterine growth restriction (IUGR). METHODS: Prospective observational study of singletons with IUGR (abdominal circumference < 5(th) percentile) who underwent serial standardized umbilical artery (UA), middle cerebral artery (MCA), ductus venosus (DV) and umbilical vein (UV) Doppler surveillance. Time intervals between progressive Doppler abnormalities and patterns of deterioration were related to UA Doppler status and gestational age. RESULTS: Six hundred and sixty-eight longitudinal examinations were performed in 104 fetuses, identifying three patterns of progression: (1) Mild placental dysfunction (n = 34) that remained confined to the UA/MCA. The UA became abnormal at a median of 32 weeks' gestation but the pulsatility index never exceeded 3 SD above normal. Progression took a median of 33 days, requiring delivery at a median of 35 weeks. (2) Progressive placental dysfunction (n = 49). Initially normal UA Doppler PI at 29 weeks' gestation increased beyond 3 SD, progressing to abnormal MCA, absent/reversed UA diastolic flow, abnormal DV, UV pulsations in 9-day intervals requiring delivery by 33 weeks. (3) Severe early-onset placental dysfunction (n = 21). Markedly elevated UA PI established by 27 weeks' gestation was associated with rapid (7-day intervals) progression to abnormal venous Doppler with median delivery at 30.6 weeks. Gestational age at onset, time to delivery and progression intervals were different between patterns (all P < 0.05). CONCLUSION: The characteristics of cardiovascular manifestations in IUGR are determined by the gestational age at onset and the severity of placental disease. Recognition of these factors is critical for planning fetal surveillance in IUGR.
Abstract: A case of a severe HELLP syndrome episode at 21 + 0 weeks of gestation is reported. Expectant management resulted in rapid improvement of all HELLP parameters. Subsequently preeclampsia developed and uteroplacental dysfunction deteriorated. Intrauterine fetal death occured at 22 + 3 weeks of gestation.
Abstract: OBJECTIVES: To assess the effect of fetoscopic tracheal occlusion (FETO) enhanced by hyperoncotic distension on pulmonary hypoplasia from preterm premature rupture of membranes prior to 22 weeks of gestation (ePPROM). METHODS AND RESULTS: In a fetus with ePPROM since 19+5 weeks of gestation, MRI at 28+2 weeks provided a lung volume of 10 ml. FETO enhanced by hyperoncotic distension was performed at 28+3 weeks. After 4-5 days, balloon dislodgement was observed. The lung volume increased to 18 ml. The baby was born at 32+4 weeks and survived to discharge. CONCLUSIONS: FETO enhanced by hyperoncotic distension may result in impressive lung distension in fetuses with pulmonary hypoplasia from ePPROM. Further research into the life saving potential of this strategy for this common and tragic gestational event is desired.
Abstract: OBJECTIVE: To investigate the performance of non-stress test (NST), computerized fetal heart rate analysis (cCTG), biophysical profile scoring (BPS) and arterial and venous Doppler ultrasound investigation in the prediction of acid-base status in fetal growth restriction. METHODS: Growth-restricted fetuses, defined by abdominal circumference < 5(th) percentile and umbilical artery (UA) pulsatility index > 95(th) percentile, were tested by NST, cCTG, BPS, and UA, middle cerebral artery (MCA), ductus venosus (DV) and umbilical vein (UV) Doppler investigation. The short-term variation (STV) of the fetal heart rate was calculated using the Oxford Sonicaid 8002 cCTG system. Relationships between antenatal test results and cord artery pH < 7.20 were investigated, using correlation, parametric and non-parametric tests. RESULTS: Fifty-six of 58 patients (96.6%) received complete assessment of all variables. All were delivered by pre-labor Cesarean section at a median gestational age of 30 + 6 weeks. The UA pulsatility index (PI) was negatively correlated with the cCTG STV (Pearson correlation - 0.29, P < 0.05). The DV PI was negatively correlated with the pH (Pearson correlation - 0.30, P < 0.02). The cCTG mean minute variation and pH were not significantly correlated (Pearson correlation 0.13, P = 0.34). UV pulsations identified the highest proportion of neonates with a low birth pH (9/17, 53%), the highest number of false positives among patients with an abnormal BPS, abnormal DV Doppler and a STV < 3.5 ms, and also stratified false negatives among patients with an equivocal or normal BPS. Abnormal DV Doppler correctly identified false positives among patients with an abnormal BPS. cCTG reduced the rate of an equivocal BPS from 16% to 7.1% when substituted for the traditional NST. Elevated DV Doppler index and umbilical venous pulsations predicted a low pH with 73% sensitivity and 90% specificity (P = 0.008). CONCLUSION: In fetal growth restriction with placental insufficiency, venous Doppler investigation provides the best prediction of acid-base status. The cCTG performs best when combined with venous Doppler or as a substitute for the traditional NST in the BPS.
Abstract: OBJECTIVE: Nucleated red blood cells (NRBC) are fetal hematologic markers for placental dysfunction, hypoxemia, and asphyxia. NRBC count elevation at birth or persistence is linked statistically to adverse outcome, but clinical predictive value is variable. We studied novel indices to better define overall magnitude of NRBC response. STUDY DESIGN: Peripheral NRBC count was obtained from preterm (<34 weeks of gestation) growth-restricted neonates within 2 hours of life. Daily counts and duration of NRBC count >30/100 white blood cells were determined. Mean counts (NRBC-mean), area under the curve (NRBC-AUC), and declination (NRBC-slope) were analyzed over week 1. NRBC parameters were related to major morbidity (bronchopulmonary dysplasia, grade III/IV intraventricular hemorrhage, necrotizing enterocolitis included) and neonatal death (NND). RESULTS: Twenty-two of 176 patients (12.5%) had acidosis. Complications included bronchopulmonary dysplasia (n = 36; 20.5%), intraventricular hemorrhage (n = 18; 10.2%), necrotizing enterocolitis (n = 18; 10.2%), NND (n = 18; 10.2%). NRBC-AUC and NRBC-mean correlated most strongly with pH, birthweight, and gestational age (Pearson coefficient -0.45 to -0.18; all P < .001). NRBC-AUC varied most between nonmorbid and morbid; NRBC-mean varied most between survivors and NND (all P < .001). NRBC persistence strongly predicted NND: clearance by day 4 was achieved by 80% of survivors and only 35% of NNDs. Logistic regression identified prematurity and persistent NRBC counts as primary morbidity determinants (r2 = 0.56; P < .01). Although the importance of individual NRBC counts varied, day-4 NRBC counts of >70 predicted morbidity best (sensitivity, 82%; specificity, 96%). Presence of morbidity and birthweight were prime determinants of death (r2 = 0.42; P < .01). CONCLUSION: Simple daily NRBC counts provide clinical information that is equivalent to more complicated methods. The importance of prematurity and growth are emphasized, but elevated NRBC counts beyond day 3 are relevant independent predictors of adverse outcome.
Abstract: OBJECTIVE: To evaluate the spectrum of fetal cardiac defects associated with abnormal sonographic findings in the area behind the heart (ABTH) in the four-chamber view. METHODS: This study included a retrospective review of 393 fetuses with congenital heart defects (CHD) detected in 2003-2005 at our tertiary referral center and a prospective evaluation of 4666 fetal echocardiograms, including 220 cases of CHD, performed between January 2006 and February 2007. The retrospective and prospective groups did not differ significantly with respect to cardiac anomalies or abnormal findings in the ABTH, allowing us to combine the 613 fetuses with CHD investigated over a 50-month period. RESULTS: In the study period, 69 fetuses had abnormalities of the ABTH (75% with major CHD). In 28 fetuses, two equally sized vessels ran behind the heart. Of these, 26 had an interrupted inferior vena cava with azygos continuation and two had total anomalous infracardiac pulmonary venous connection. In 41 fetuses, only one vessel was visualized, but the descending thoracic aorta was positioned contralateral to the cardiac apex. Of these, 29 had levocardia with right descending aorta. All of them had a right aortic arch. The remaining 12 had dextrocardia with left descending aorta. CONCLUSIONS: The ABTH in the four-chamber view is easy to evaluate and offers important diagnostic markers for fetal CHD. Thus, it might enhance the screening performance of the four-chamber view. Attention must be paid to the number of vessels behind the heart and their laterality.
Abstract: OBJECTIVE: To determine the incidence of reversed end-diastolic flow (REDF) in the umbilical artery in high-risk first-trimester pregnancies and evaluate associated conditions. METHODS: This was a prospective evaluation of the umbilical artery Doppler waveforms of 614 consecutive high-risk pregnancies between 10 and 14 weeks of gestation, to determine those with REDF. The associated anomalies and characteristics of these fetuses were then investigated. RESULTS: In 278/614 (45.3%) fetuses, there was positive end-diastolic flow in the umbilical artery; in 331/614 (53.9%) end-diastolic flow was absent and in 5/614 (0.8%) there was REDF. Three of the five fetuses with REDF had tetralogy of Fallot (TOF) with absent pulmonary valve syndrome (APVS) and a patent ductus arteriosus, and all three showed signs of cardiac failure, with reversed blood flow in the ductus venosus during atrial systole and generalized skin edema. Another fetus had a large ventricular septal defect and the remaining fetus had agenesis of the ductus venosus. Three fetuses had trisomy 18 and one had trisomy 13. CONCLUSIONS: REDF in the umbilical artery is very rare in early pregnancy and mostly occurs in association with major fetal vascular anomalies and cardiac defects, particularly TOF with APVS and patent arterial duct. We propose that the patency of the arterial duct in TOF with APVS leads to heart failure with subsequent demise early in pregnancy. Therefore, the frequent absence of the arterial duct observed in APVS in later pregnancy is more likely to be a result of early selection than a prerequisite for the development of this lesion as has been proposed previously.
Abstract: Here we report two cases of first-trimester parvovirus B19 (PV-B19) infection that were successfully treated by intrauterine blood transfusion into the umbilical vein. At 13 weeks' gestation both fetuses presented with increased nuchal translucency (NT) and cardiomegaly. In both cases pulsed Doppler ultrasound examination of the fetal middle cerebral artery (MCA) revealed increased peak systolic velocity (PSV), which led to a suspicion of fetal anemia. Maternal PV infection was confirmed by a positive polymerase chain reaction result. Each fetus received a 3-mL intravenous transfusion of packed red blood cells into the umbilical vein, using a 25-G spinal needle. Follow-up ultrasound and Doppler examination demonstrated fetal well-being, decline of the MCA-PSV and resolution of the NT. Case 1 was readmitted at 25 weeks' gestation with severe hydrops fetalis, and both mother and fetus still tested positive for PV-B19 DNA. Three more intrauterine blood transfusions were performed and the fetal hydrops resolved. In Case 2 no additional transfusions were needed. Both babies had a good neonatal outcome and uneventful follow-up. Our findings demonstrate that the MCA-PSV is helpful in establishing the diagnosis of first-trimester fetal anemia. Intravasal transfusion can be attempted as early as the first trimester.
Abstract: OBJECTIVE: To evaluate attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care centre and to compare the rate of invasive testing over a period of four years. METHODS: A retrospective analysis of 2657 singleton pregnancies with targeted first and second trimester ultrasound examination at 11-14, 15-18 and 19-23 weeks' gestation. RESULTS: The number of patients at or beyond 35 years increased by 36 % over this period. Concomitant with an increasing proportion of first trimester examinations (+ 13 %), a decrease in 15-18 weeks' examinations (- 14 %), but no changes regarding the 19-23 weeks' examination were observed. A total of 78 (2.9 %) abnormal karyotypes were found and 92 % (56/61) of the cases with autosomal trisomy had sonographic markers suggestive of foetal aneuploidy. The proportion of diagnosed chromosomal abnormalities at 11-14 weeks increased from 14 % in the first half to 49 % in the second half of the study period (p < 0.01). We observed a significant decrease in the rate of invasive procedures, especially in women reassured by a normal ultrasound examination (54 % versus 37 %, p < 0.01). CONCLUSION: There is an increasing acceptance of first trimester targeted ultrasound examination with the potential advantage of an earlier diagnosis of foetal aneuploidy. Furthermore, we observed annually increasing numbers of women who used the results of the ultrasound examination to guide their final decision about invasive testing, rather than undergo genetic testing as a primary option.
Abstract: OBJECTIVE: To identify specific estimates and predictors of neonatal morbidity and mortality in early onset fetal growth restriction due to placental dysfunction. METHODS: Prospective multicenter study of prenatally diagnosed growth-restricted liveborn neonates of less than 33 weeks of gestational age. Relationships between perinatal variables (arterial and venous Dopplers, gestational age, birth weight, acid-base status, and Apgar scores) and major neonatal complications, neonatal death, and intact survival were analyzed by logistic regression. Predictive cutoffs were determined by receiver operating characteristic curves. RESULTS: Major morbidity occurred in 35.9% of 604 neonates: bronchopulmonary dysplasia in 23.2% (n=140), intraventricular hemorrhage in 15.2% (n=92), and necrotizing enterocolitis in 12.4% (n=75). Total mortality was 21.5 % (n=130), and 58.3% survived without complication (n=352). From 24 to 32 weeks, major morbidity declined (56.6% to 10.5%), coinciding with survival that exceeded 50% after 26 weeks. Gestational age was the most significant determinant (P<.005) of total survival until 26(6/7) weeks (r(2)=0.27), and intact survival until 29(2/7) weeks (r(2)=0.42). Beyond these gestational-age cutoffs, and above birth weight of 600 g, ductus venosus Doppler and cord artery pH predicted neonatal mortality (P<.001, r(2)=0.38), and ductus venosus Doppler alone predicted intact survival (P<.001, r(2)=0.34). CONCLUSION: This study provides neonatal outcomes specific for early-onset placenta-based fetal growth restriction quantifying the impact of gestational age, birth weight, and fetal cardiovascular parameters. Early gestational age and birth weight are the primary quantifying parameters. Beyond these thresholds, ductus venosus Doppler parameters emerge as the primary cardiovascular factor in predicting neonatal outcome. LEVEL OF EVIDENCE: II.
Abstract: BACKGROUND: Adequate visualization of the placenta or umbilical cord during fetoscopic procedures in complicated monochorionic twin pregnancies may be difficult because of placental position and spatial constraints, as well as stained amniotic fluid. Partial amniotic carbon dioxide insufflation (PACI) has made it possible to overcome these obstacles in other fetoscopic procedures, but its value has not yet been reported in monochorionic twins. METHODS: Partial amniotic carbon dioxide insufflation was carried out in five expectant women with complicated monochorionic twin pregnancies between 19 + 6 to 29 + 4 weeks of gestation when adequate fetoscopic visualization of pathological placental surface vessels or the umbilical cord was impossible because of stained or too little amniotic fluid. In four cases, five fetoscopic laser ablations of pathological placental vessels in twin-to-twin transfusion syndrome (TTTS) were performed. In one discordant twin pregnancy with TTTS, PACI was carried out in order to achieve umbilical cord ligation in a recipient with omphalocele and cardiac malformation. RESULTS: Partial amniotic carbon dioxide insufflation offered superior visualization and did not result in any acute maternal or fetal complications. After fetoscopic laser coagulation, three women delivered one fetus at 27 + 5, two fetuses at 28 + 6, and two fetuses at 35 + 4 weeks of gestation, respectively. One set of twins with TTTS was lost. Following umbilical cord ligation, the surviving twin was delivered at 37 + 2 weeks of gestation. CONCLUSIONS: Partial amniotic carbon dioxide insufflation may facilitate fetoscopic procedures in complicated monochorionic twin pregnancies when conventional fetoscopic approaches within amniotic fluid meet difficulties. Further studies are required to allow assessment of benefits, risks, and safety margins of the new approach before it can generally be recommended.
Abstract: AIM: The purpose of the study was to investigate whether colour Doppler sonography is helpful in the surveillance of abnormal third stage of labour. MATERIALS AND METHODS: 20 patients were enrolled in the prospective study. Inclusion criteria were third stage of labour > 15 min and/or clinical suspicion of retained placenta. By means of grey scale and colour Doppler sonography the length of distinct phases of third stage of labour and length of visualisation of blood flow between myometrium and placenta were measured. These data were compared with previously published normal values. RESULTS: The patients were allocated into four groups: 1. Patients with prolonged third stage of labour, but normal vaginal delivery of the placenta (Group 1, 8 cases). 2. Patients with clinically suspected retained placental parts (Group 2, 4 cases). 3. Patients with manual removal of the placenta without confirmation of placenta accreta (Group 3, 4 cases). 4. Patients with manual removal of the placenta with confirmation of placenta accreta (Group 4, 4 cases). A significant longer latent phase was responsible for the prolonged third stage of labour in Group 1 (p < 0.05). Blood flow between myometrium and placenta was significantly longer visible in Group 4 than in the normal cohort (p < 0.0001). CONCLUSION: Grey scale sonography can help to distinguish between uncomplicated and complicated prolonged third stage of labour. Colour Doppler sonography can detect persistent blood flow between myometrium and placenta during third stage of labour in cases of placenta accreta. In these instances, the patient may benefit from colour Doppler sonography-guided curettage.
Abstract: We present two cases of upper extremity vascular malformation causing a high output state in the prenatal period. One fetus responded well to transplacental digitalis treatment. Both newborns had a Kasabach-Meritt sequence including anemia and thrombocytopenia. Postpartum treatment included successful interventional occlusion of the main feeding arteries and subsequent surgical removal of the tumor.
Abstract: We describe a case of aortic stenosis in the first trimester that progressed to hypoplastic left heart syndrome. At 11 + 3 weeks' gestation the four-chamber view was normal but evidence of increased aortic blood velocity prompted the diagnosis of aortic outflow obstruction. At 16 + 6 weeks' gestation the left ventricle was hyperechogenic, globular and dysfunctional, suggesting the development of hypoplastic left heart syndrome. The aortic valve was small and there was no flow across the mitral or aortic valves. From 17 + 3 weeks increased reversed flow in the pulmonary veins suggested restriction of the foramen ovale. Follow-up echocardiographic examinations were performed every 2-3 weeks until delivery at term. Postnatal intervention included a Norwood I operation performed on the 5th postnatal day. We have shown the feasibility and utility of early fetal echocardiography and that a left heart obstruction diagnosed in the first trimester can progress to left heart hypoplasia during the early second trimester. This information is important for planning prenatal and perinatal management.
Abstract: BACKGROUND: This study assessed the feasibility and safety of surgical techniques developed in sheep for fetoscopic fetal cardiac interventions during three selected less complex procedures for noncardiac fetal conditions in humans. On the basis of this assessment, the implications for the clinical introduction of minimally invasive fetoscopic fetal cardiac interventions in the near future are discussed. METHODS: The authors performed 16 percutaneous fetoscopic procedures in 13 human fetuses at between 19 + 2 and 34 + 6 weeks of gestation, then analyzed various parameters of surgical relevance for minimally invasive fetoscopic fetal cardiac interventions. Each of the three noncardiac malformations posed typical surgical challenges that will be critical for the technical success of minimally invasive fetoscopic cardiac interventions. RESULTS: Overall technical success was achieved in 14 of the 16 procedures. Percutaneous fetoscopic surgery did not result in any untoward effects and was well tolerated by all but two pregnant women: one with bleeding complication and one with mild postoperative pulmonary edema. No fetal complications or injuries from the various percutaneous fetoscopic surgical approaches were observed. CONCLUSIONS: The author's experience with surgical techniques introduced for percutaneous fetoscopic fetal cardiac intervention in selected noncardiac fetal lesions has led them to believe the time has come for the clinical introduction of fetoscopic fetal cardiac interventions. After an adequate learning curve supervised by committees of human research, the overall outcome and quality of postnatal life for the unborn patients ultimately will determine whether fetoscopic or other fetal cardiac interventions will be better therapeutic alternatives to currently available postnatal procedures.
Abstract: OBJECTIVE: To evaluate the accuracy of the prenatal diagnosis of right isomerism and to assess possible diagnostic and prognostic markers. METHODS: Retrospective review of all cases of right isomerism identified between 1989 and 2003 in two tertiary referral centres in Germany. RESULTS: Among 21 foetuses, 16 had a correct prenatal diagnosis of right isomerism. 19 showed different types of viscerocardiac heterotaxy, 12 of them in combination with juxtaposition of vena cava inferior and aorta. 20 had cardiac defects, with a high prevalence of atrioventricular septal defect (CAVSD) (62 %), right outflow tract obstruction (48 %), anomalous pulmonary venous return (33 %) and double outlet right ventricle (29 %). 4 out of 6 cases with total anomalous pulmonary venous return were overseen on prenatal ultrasound. Only 6 children survived. The highest loss occurred in the neonatal period. Two out of 6 survivors underwent single ventricle palliation, while another two had a biventricular repair. One child is awaiting mitral valve replacement. The remaining case has no cardiac defect and lives with supraventricular re-entry tachycardia. Only the presence of CAVSD was significantly correlated with non-survival (p < 0.05). CONCLUSIONS: The prenatal diagnosis of right isomerism remains a difficult task. Important sonographic markers are viscerocardiac heterotaxy, complex cardiac malformations and juxtaposition of vena cava inferior and aorta. Special attention has to be paid to the pattern of pulmonary venous drainage, as it is often misdiagnosed. The mortality in neonates is high, especially in the presence of CAVSD. Survivors suffer from significant morbidity.
Abstract: OBJECTIVE: To assess the impact of isolated lesions of the fetal right heart on ductus venosus (DV) blood flow profiles. METHODS: Retrospective evaluation of DV blood flow profiles in 83 fetuses with isolated right-sided cardiac lesions. Cases were divided into two groups. Group A had right-sided cardiac lesions associated with a large ventricular septal defect that equalized interventricular pressures (double outlet right ventricle (n = 12), tetralogy of Fallot (n = 19), pulmonary atresia (n = 5)). Group B had right-sided cardiac lesions with obstruction of the inflow (tricuspid atresia with ventricular septal defect (n = 14)) or obstruction of the outflow with intact ventricular septum (Ebstein's anomaly (n = 13), pulmonary stenosis (n = 13) and pulmonary atresia (n = 7)). Comparisons were made with 585 uneventful singleton pregnancies and previously published normative values. RESULTS: Fetuses in Group B had significantly higher rates of abnormal DV flow profiles compared to Group A and controls (P < 0.01). Conversely, there were no significant differences concerning DV parameters between fetuses in Group A and controls. Despite these different DV flow characteristics, there were no significant differences concerning signs of cardiac failure and/or survival to the perinatal period between the two groups. CONCLUSIONS: Right-sided cardiac lesions with obstruction of the inflow or outflow with intact ventricular septum are significantly associated with abnormally high pulsatilities in the DV and may even cause a reversal of flow during atrial contraction. These changes do not necessarily indicate cardiac failure, as they are primarily attributable to the special hemodynamics of the cardiac defect.
Abstract: OBJECTIVE: To evaluate the conditions associated with absent ductus venosus (ADV) diagnosed by prenatal ultrasonography. METHODS: Retrospective review of 23 cases with ADV diagnosed in two tertiary referral centers with a general screening policy concerning Doppler assessment of the ductus venosus. The results are discussed together with 63 cases from a review of the literature. RESULTS: In 19 fetuses the umbilical vein connected to the portal sinus, while the remaining four fetuses had extrahepatic umbilical venous drainage. Associated anomalies were present in 15 out of 23 fetuses: complex malformation syndromes (n = 6), chromosomal anomalies (n = 4), isolated cardiac defects (n = 4) and isolated extracardiac anomalies (n = 1). Eight fetuses had either no associated anomalies or minor anomalies. Hydropic changes were present in 12 of the 23 fetuses. In common with the reviewed cases, the presence of cardiac malformations, complex non-chromosomal malformation syndromes and hydrops was significantly associated with intrauterine or postnatal death while the type of umbilical venous drainage was not significantly different between survivors and non-survivors. However, among fetuses with no or minor associated anomalies the outcome was significantly better in the group without liver bypass. CONCLUSIONS: ADV is significantly associated with fetal cardiac and extracardiac anomalies, aneuploidies and hydrops. Fetuses with liver bypass have an additional risk of developing congestive heart failure that significantly affects outcome, even if the fetal cardiovascular anatomy is otherwise normal. ADV without liver bypass seems to have a more favorable prognosis if it is not associated with other malformations.
Abstract: OBJECTIVE: To evaluate the prenatal distribution, associated conditions and outcome of the different types of right aortic arch (RAA) detected in fetal life. METHODS: This was a retrospective review of all cases of RAA detected prenatally between 1998 and 2005 in two tertiary referral centers. RESULTS: In the study period 71 cases of RAA were detected; 26 (37%) had RAA with aberrant left subclavian artery, 23 (32%) had RAA with mirror-image branching, 20 (28%) had RAA of unknown type and two (3%) had double aortic arch. While 20/26 cases with RAA and aberrant left subclavian artery were isolated findings, all 23 cases with RAA and mirror-image branching were associated with cardiac defects, namely tetralogy of Fallot (43%) or pulmonary atresia with ventricular septal defect (22%). Of the 20 cases with RAA, 19 of unknown type were associated with heterotaxy syndromes and had additional cardiac malformations and ambiguities of the situs. The two cases with DAA were isolated findings. Seven cases in our series (10%) had a microdeletion 22q11 and these were significantly associated with extracardiac malformations. The outcome in our series depended solely on the associated cardiac and extracardiac malformations, with the exception of one infant with isolated DAA, in whom a surgical correction was warranted. CONCLUSIONS: RAA detected in fetal life is associated frequently with other cardiac/non-cardiac malformations, heterotaxy syndromes and microdeletions 22q11. The associated conditions vary depending on the branching type of the brachiocephalic vessels and the presence of extracardiac malformations.
Abstract: OBJECTIVE: Posterior urethral valves (PUV) are a common cause of lower urinary tract obstruction. Renal failure occurs in approximately one third of the cases. It is debated whether urinoma formation is a protective mechanism to reduce pressure-related impairment of renal function. The aim of our study was to determine if urinoma formation is able to preserve renal function on the side of the urinoma. METHODS: Five male patients diagnosed with posterior urethral valves and uni- or bilateral urinoma formation were reviewed. Renal function was assessed by serum creatinine level at days 4-7 and at two months, in addition to dimercaptosuccinylacid (DMSA) scintigraphy at 4-6 weeks postnatal age. RESULTS: Impaired renal function occurred unilaterally in four patients, two had bilateral urinoma formation, and the other two boys presented with unilateral urinoma, one with preserved renal function ipsilateral to the urinoma and the other on the contralateral side. Urinary ascites was detected in three patients, all underwent antenatal centesis. CONCLUSIONS: No association was found between renal function and urinoma formation in patients with PUV.
Abstract: Malformations of the umbilical vein are rare abnormalities diagnosed on prenatal ultrasound. They might be associated with fetal hydrops and fetal death. We report two newborn infants with prenatal diagnosis of umbilical vein dilatation who developed venous thrombosis and discuss the pre- and postnatal management of the constellation with special emphasis on antithrombotic treatment.
Abstract: OBJECTIVE: In order to assess the effect of deliberately delayed percutaneous fetoscopic tracheal occlusion on survival of fetuses with life-threatening congenital diaphragmatic hernia. METHODS: Eight fetuses with life-threatening congenital diaphragmatic hernia underwent fetoscopic tracheal balloon occlusion between 29 + 0 and 32 + 4 weeks of gestation. Delayed occlusion was chosen in order to minimize potentially negative pulmonary effects from premature delivery as a result of fetal surgery. In addition, we wanted to become able to provide all available postnatal intensive care treatment means in these patients. RESULTS: Six of the 8 fetuses survived to discharge from hospital. CONCLUSION: Delayed fetoscopic tracheal balloon occlusion may be rewarded with lung growth sufficient to allow survival of fetuses with life-threatening congenital diaphragmatic hernia.
Abstract: OBJECTIVE: The purpose of this prospective cross-sectional study was to compile normative data about biometry of the fetal heart and great vessels between 10 and 15 weeks in 123 normal singleton pregnancies. Additionally, we investigated the different methods and the optimal examination time of early fetal echocardiography. METHODS: The interrogated parameters included total heart diameter; heart area and circumference; right and left ventricular diameter; diameter, circumference, and area of the thorax; and diameter of the aorta and pulmonary trunk. Visualization of the 4-chamber view, 3-vessel view, origin and crossover of the great arteries, aortic arch, ductus arteriosus, superior and inferior venae cavae, and pulmonary veins was analyzed, and the success rates by transvaginal sonography (TVS) and transabdominal sonography (TAS) were calculated. RESULTS: Complete evaluation of the fetal heart was impossible at 10 weeks; the total success rate increased from 45% at 11 weeks to 90% between 12 and 14 weeks and 100% at 15 weeks. Between 10 and 13 weeks, TVS was superior to TAS. At 14 weeks, both methods were similar to each other, and at 15 weeks, TAS allowed adequate visualization of all structures. Linear regression analysis showed a significant correlation between the interrogated parameters and gestational age, crown-rump length, and biparietal diameter (P < .05). The ratio of right and left ventricular diameters and the ratio of pulmonary trunk and aortic diameters were constant. CONCLUSIONS: Early fetal heart evaluation by TVS or TAS or both is reasonable and feasible. Our normative data could be helpful for understanding the normal development of the fetal heart and great arteries and for detection of cardiac defects in early pregnancy.
Abstract: OBJECTIVE: Multi-vessel Doppler ultrasonography and biophysical profile scoring (BPS) are used in the surveillance of growth restricted fetuses (IUGR). The interpretation of both tests performed concurrently may be complex. This study examines the relationship between Doppler ultrasonography and biophysical test results in IUGR fetuses. METHODS: Three hundred and twenty-eight IUGR fetuses (abdominal circumference < 5th percentile, elevated umbilical artery (UA) pulsatility index (PI)) had concurrent surveillance with UA, middle cerebral artery (MCA) and ductus venosus (DV) Doppler ultrasonography and BPS (fetal tone, movement, breathing, maximal amniotic fluid pocket and fetal heart rate). Patients were stratified into three groups according to their Doppler examination: (1) abnormal UA alone; (2) brain sparing (MCA-PI > 2 SD below mean for gestational age); and (3) abnormal DV (PI > 2 SD above the mean for gestational age) and BPS groups: (1) normal (> 6/10); (2) equivocal (6/10); and (3) abnormal (< 6/10). Predictions of short-term perinatal outcomes by both modalities were compared for stratification. The distribution and concordance of Doppler and BPS test results were examined for the whole patient group and based on delivery prior to 32 weeks' gestation. RESULTS: Abnormal UA Doppler results alone were observed in 109 fetuses (33.2%), brain sparing in 87 (26.5%) and an abnormal DV in 132 (40.2%). The BPS was normal in 158 (48.2%), equivocal in 68 (20.7%) and abnormal in 102 (31.1%). Both testing modalities stratified patients into groups with comparable acid-base disturbance and perinatal outcome. Of the nine possible test combinations the largest subgroups were: abnormal UA alone/normal BPS (n = 69; 21%) and abnormal DV Doppler/abnormal BPS (n = 62; 18.9%). Assessment of compromise by both testing modalities was concordant in 146 (44.5%) cases. In 182 fetuses with discordant results the BPS grade was better in 115 (63.2%, P < 0.0001). Marked disagreement of test abnormality was present in 57 (17.4%) fetuses. Of these, abnormal venous Doppler in the presence of a normal BPS constituted the largest group (Chi-square P < 0.002). Stratification was not significantly different in patients delivered prior to 32 weeks' gestation. CONCLUSION: Doppler ultrasonography and BPS effectively stratify IUGR fetuses into risk categories, but Doppler and BPS results do not show a consistent relationship with each other. Since fetal deterioration appears to be independently reflected in these two testing modalities further research is warranted to investigate how they are best combined.
Abstract: Congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia bears a poor prognosis for hydropic fetuses owing to cardiac failure. We attempted percutaneous fetoscopic and ultrasound-guided tracheal decompression in a hydropic human fetus with CHAOS associated with Fraser syndrome. Percutaneous fetoscopic and ultrasound-guided tracheal decompression was performed using three trocars under general materno-fetal anesthesia at 19 + 5 weeks of gestation. Abnormal fetoplacental blood flow normalized within hours as a result of the intervention. Furthermore, a normalization of lung : heart size and lung echogenicity was observed within days. Resolution of hydrops was complete within 3 weeks. Premature rupture of membranes and premature contractions prompted emergency delivery of the fetus by ex-utero intrapartum treatment (EXIT) at 28 + 2 weeks of gestation. Following delivery, the lungs could be ventilated at low pressures and ambient oxygen concentration. Weaning from ventilation was achieved at 18 days of postnatal life. Our experience indicated that percutaneous fetoscopic and ultrasound-guided decompression of the fetal trachea is feasible and may permit normalization of hemodynamics in hydropic human fetuses with CHAOS from laryngeal atresia. The procedure may also result in normalization of heart : lung size and provide the time needed to regain the function of the overstretched diaphragm in this grave fetal condition.
Abstract: OBJECTIVE: The purpose of this study was to evaluate the detection rate of early fetal echocardiography and the in utero development of congenital heart defects (CHD). METHODS: Cases were selected from all singleton pregnancies between 1997 and 2003 in which detailed fetal 2-dimensional and color-coded Doppler echocardiography was performed in our prenatal unit between 11 weeks' and 13 weeks 6 days' gestation; 2165 cases with complete outcome parameters were analyzed. RESULTS: During this study period, CHD were diagnosed in 46 fetuses. Between 11 and 13 weeks' gestation, 29 CHD were diagnosed (11 weeks, 9 cases; 12 weeks, 8 cases; and 13 weeks, 12 cases); 9 CHD were found in the second trimester and 2 in the third trimester. The in utero detection rate of fetal echocardiography was 86.96% (n = 40). Six additional CHD (13.04%) were detected postnatally. The spectrum of detected CHD changed with advancing gestational age and was different from the postnatal detected heart defects. CONCLUSIONS: Early fetal echocardiography is feasible and allows the detection of most CHD. Congenital heart defects vary in appearance at different stages of pregnancy and may evolve in utero with advancing gestational age. Therefore, early fetal echocardiography should always be followed by echocardiography at mid gestation.
Abstract: OBJECTIVE: To evaluate the associated conditions and the outcome of persistent left superior vena cava (PLSVC) detected in fetal life. METHODS: This was a retrospective review of all cases of PLSVC detected prenatally between 1998 and 2004 in two tertiary referral centers in Germany. Patient charts, ultrasound video recordings and still frames of all cases were reviewed for associated conditions and outcome. RESULTS: Eighty-two cases of PLSVC were detected in the study period. Thirty-seven cases (45%) were associated with heterotaxy syndromes, 19 (23%) with isolated cardiac malformations, seven (9%) with aneuploidy, six (7%) with complex malformation syndromes and six (7%) with isolated extracardiac malformations. Seven cases (9%) had no associated condition. Eighty-three percent of the fetuses in this series had associated cardiac malformations; the most frequent cardiac malformations in those with heterotaxy syndromes were complete atrioventricular septal defect (75%) and right outflow tract obstruction (58%). After exclusion of cases with heterotaxy, most congenital heart defects were ventricular septal defects (41%) and coarctation (34%). The outcome of PLSVC was determined solely by the associated conditions. After exclusion of terminated cases, heterotaxy syndromes as well as complete atrioventricular septal defects were associated significantly with perinatal and infant death. In contrast, all cases with isolated PLSVC or associated correctable extracardiac malformations survived and were doing well at the time of writing. CONCLUSIONS: PLSVC detected in fetal life has to be followed by a meticulous inspection of the fetal anatomy as it is frequently associated with heterotaxy syndromes, other cardiac/non-cardiac malformations and aneuploidy that determine the outcome. Isolated PLSVC is a benign vascular anomaly and may not affect the outcome.
Abstract: Intrapericardial teratoma is a rare tumour which may become life threatening when it causes mediastinal compression. Early sonographic detection and careful evaluation is necessary for further management. In this paper, we present a case with a large intrapericardial teratoma diagnosed in utero (25 + 0 weeks). After birth, 3D-echocardiography was particularly helpful in obtaining a comprehensive view of the three-dimensional structure of this complex tumour, in order to determine tumour extension and attachment before surgical excision. This case illustrates the opportunities which new, noninvasive echocardiographic tools create to aid therapeutic management and surgical therapy of critically ill patients.
Abstract: OBJECTIVE: The current operative approach for fetal repair of spina bifida aperta requires maternal laparotomy and hysterotomy. Following technical feasibility studies in sheep, we performed percutaneous fetoscopic patch coverage of this lesion in 3 human fetuses between 23 + 4 and 25 + 3 weeks of gestation. METHODS AND RESULTS: Whereas the patch detached in the first case 3 weeks after the procedure, it covered the exposed neural tissue in the 2 other fetuses beyond their delivery. Two of the three children survived, but 1 unexpectedly died from a ventilation problem in its 3rd week of life. In 1 of the 2 survivors, ventriculoperitoneal shunt insertion was delayed. CONCLUSIONS: Percutaneous fetoscopic patch coverage of spina bifida aperta is feasible in human fetuses and offers a substantial reduction of maternal trauma compared to open fetal repair. Further clinical experience is now required before the efficacy of the new approach to protect the exposed neural tissue from mechanical and chemical damage and to improve hindbrain herniation can be evaluated.
Abstract: OBJECTIVE: To evaluate the development during gestation and up to 1 year postnatally of isolated small ventricular septal defects (VSDs) not visible by gray-scale imaging and detected only on color Doppler fetal echocardiography. METHODS: This was a retrospective analysis of 146 fetuses with isolated VSDs detectable only on color Doppler echocardiography. Complete sequential gray-scale, color Doppler and spectral Doppler examination of the fetal heart were performed. The following variables were documented: site of the VSD, presence of extracardiac or chromosomal anomalies, outcome of the pregnancy and evolution of the defect up to 1 year postnatally. RESULTS: A total of 113 fetuses reached their first year of postnatal life, 23 pregnancies were terminated, there were three stillbirths/neonatal deaths, and seven were lost to follow-up. It was observed that 32.7% (n = 37) of all defects in neonates alive after 1 year closed in utero, 44.3% (n = 50) of defects closed spontaneously within the first postnatal year, and 23.0% (n = 26) of defects did not close. In all, a comparable number of perimembranous and muscular septal defects closed spontaneously in utero and during the first year of postnatal life. Among 35 fetuses with extracardiac anomalies 51.4% (n = 18) were euploid. CONCLUSION: Small VSDs, detectable only by color Doppler echocardiography, show a high spontaneous intrauterine and postnatal closure rate. These findings might be of value for prenatal parental counseling.
Abstract: OBJECTIVE: To report on our experience with intraamniotic injection of ethacridine lactate (EL) for second trimester termination of pregnancy (TOP) and to compare its effectiveness with vaginal PGE1 in this setting. STUDY DESIGN: (a) Retrospective analysis of 54 intraamniotic EL-induced TOP. (b) Matched pair analysis of 50 second trimester TOP, using intraamniotic EL in group A (n=25) and vaginal PGE1 suppositories in group B (n=25). Main outcome measures: success rate, induction-delivery interval, analgesic use, drop in maternal hemoglobin, complications. RESULTS: (a) TOP with EL alone was successful in 50 cases (93%). Mean duration from instillation to delivery was 40.5 h (range 14-58, S.D.: +/-9.0). Mean analgesic need was low. Mean drop in hemoglobin was low (1.0 g/dl, S.D.: +/-1.1). (b) The matched pair analysis revealed a significantly shorter induction-delivery interval in the vaginal PGE1 group (mean 26.9 h, range 8-80, S.D.: +/-16.8 versus 41.0 h, range 24-55, S.D.: +/-7.3, p<.05). There were no significant differences in analgesic use or drop in hemoglobin. In both groups one case of post partum hemorrhage occurred. CONCLUSION: Intraamniotic instillation of ethacridine lactate in second trimester TOP is safe, cheap and successful in the vast majority of cases. Disadvantages are the longer induction-delivery interval compared to modern prostaglandins and the invasive mode of application. However, by the use of EL the side effects of repeated prostaglandin application can be avoided as well as multiple vaginal examinations. Furthermore, the time of delivery can be predicted in a narrower interval.
Abstract: OBJECTIVE: The purpose of this study was to evaluate the accuracy of the prenatal diagnosis of left isomerism and to assess possible diagnostic and prognostic markers. METHODS: We conducted a retrospective review of all previously unpublished cases of left isomerism diagnosed in the prenatal and postnatal periods in 2 tertiary referral centers in Germany over 15 years. RESULTS: Among 34 fetuses, 31 had a correct prenatal diagnosis of left isomerism; 31 had an interruption of the inferior vena cava with azygos continuation; 22 had different types of viscerocardiac heterotaxy; 13 had heart block; and 28 had cardiac defects, with a high prevalence of atrioventricular septal defects (n = 24), right outflow tract obstruction (n = 11), double-outlet right ventricles (n = 6), and anomalous pulmonary venous return (n = 6). Among the 34 cases, 9 underwent termination of pregnancy; 2 fetuses died in utero; 5 children died in the neonatal period; and 4 children died in infancy. Only the presence of heart block and hydrops was significantly correlated with nonsurvival (P < .05). Fourteen children survived, with a mean follow-up +/- SD of 2.9 +/- 2.6 years. Three survivors underwent single-ventricle palliation, and 1 had successful biventricular repair. Three children were awaiting cardiac repair. The remaining 7 children had minor or no associated cardiac defects and were doing well. CONCLUSIONS: Prenatal diagnosis of left isomerism is feasible, with high accuracy. Important diagnostic pointers are viscerocardiac heterotaxy, complex cardiac malformations, heart block, and interruption of the inferior vena cava. The mortality in fetuses and neonates is high in the presence of heart block and hydrops, whereas the cardiac defects influence the long-term outcome.
Abstract: OBJECTIVES: To assess the spectrum of anomalies associated with fetal heart block and to identify possible prognostic markers. METHODS: Retrospective review of all cases of second- or third-degree heart block identified in two tertiary referral centers in Germany (Bonn and Lübeck) and one in the USA (Baltimore). RESULTS: Sixty fetuses with heart block were identified in the study period. Thirty-two had complex cardiac malformations, 31 of them associated with left isomerism. The outcomes of these fetuses were 22 terminations of pregnancy (TOP), three intrauterine fetal deaths (IUFD), three neonatal deaths (NND), two childhood deaths (CD) and there were two survivors. In 20 cases without complex cardiac malformations maternal antinuclear-antibodies were detected. Their outcomes were 2 TOP, 1 IUFD, 1 NND and 16 survived. The remaining eight cases had neither complex cardiac malformations nor associated maternal antibodies. Their outcomes were 1 TOP, 2 IUFD, 2 NND and 3 survived. After exclusion of terminated cases, hydrops as well as the presence of cardiac defects was significantly associated with non-survival (P < 0.01). The cardiothoracic circumference ratio was significantly higher in hydropic fetuses and significantly negatively correlated with survival in immune-mediated cases (P < 0.01). Atrial and ventricular frequencies and their evolution did not accurately predict fetal or neonatal outcome. Sympathomimetic treatment in seven cases was not associated with favorable fetal outcome in cases of hydrops or cardiac malformations. CONCLUSIONS: The most important marker predicting adverse outcome in cases of heart block is fetal hydrops, followed by the association with complex cardiac malformations. Cases without cardiac malformations have a significantly better prognosis, especially in the absence of severe cardiomegaly.
Abstract: OBJECTIVE: The aim of this retrospective study was to examine the significance of severe Doppler waveform abnormalities in the ductus venosus (DV) and the umbilical vein (UV) for the prediction of adverse outcomes in very preterm growth-restricted fetuses with absent or reversed end-diastolic flow in the umbilical artery (UA) at 24-34 weeks of gestation. METHODS: Seventy-four fetuses with intrauterine growth restriction (IUGR) and absent or reversed end-diastolic (ARED) flow in the UA at 24-34 weeks of gestation, which were delivered before 34 weeks' gestation, were examined. Absent or reversed flow during atrial contraction (a-wave) in the DV and pulsatile flow in the UV were examined to predict severe perinatal outcomes (stillbirth, neonatal death, perinatal death, acidemia, 5 min Apgar < 7, intraventricular hemorrhage and elevated nucleated red blood cell counts at delivery). RESULTS: Twelve (16.2%) perinatal deaths, of which eight were stillbirths (10.8%), and two (2.7%) neonatal deaths occurred among 74 fetuses. Logistic regression analysis confirmed that abnormal DV Doppler waveforms (R2 = 0.57, P < 0.001) together with gestational age at delivery (R2 = 0.57, P < 0.001) showed the strongest association with perinatal death, whereas only gestational age was significantly related to neonatal death (R2 = 0.67, P < 0.05). Abnormal DV Doppler waveforms (R2 = 0.86, P < 0.001) and gestational age (R2 = 0.49, P < 0.05) were strongly associated with adverse outcome (including stillbirth, perinatal death or neonatal death). Abnormal venous Doppler flow patterns performed better in the prediction of fetal or perinatal demise than did ARED flow or brain sparing. CONCLUSION: Abnormal venous Doppler waveforms in preterm IUGR fetuses with ARED flow are strongly related to adverse fetal and perinatal outcomes before 32 weeks of gestation. The possible benefit of prolonging these pregnancies can only be evaluated in a prospective randomized study.
Abstract: Since early prevention is regarded as an important corner stone in the management of atopic diseases, the identification of reliable markers detecting individuals at risk are of major interest. Therefore, many efforts have been made to unravel reliable predictors for atopy which might identify children at risk and allow the initiation of preventive strategies at an early stage. In the past, much scientific energy has been forced in particular on the development of as noninvasive methods as possible to reach this goal. It is obvious that the identification of markers for atopy at the earliest time of life - namely immediately after birth - represents one of the most attractive attempts. In consequence various studies have been initiated to address this issue investigating markers for atopy in cord blood. Most of them have been geared to our current knowledge about cellular and soluble factors which are dysregulated in adolescent atopic individuals. Although the findings of these studies will improve our knowledge about the initial evolution of atopy, several parameters evaluated did not show any association or have led to almost conflicting results. In order to provide an up-date about the current developments in this field, recent research findings on predictive factors for atopy in cord blood are summarized in the following synopsis.
Abstract: Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself.
Abstract: We observed seven cases of atypical ductus venosus (DV) blood flow velocity waveform pattern with impairment of systolic forward flow resulting in a notch or a significant reduction in peak velocity during the S-wave in systole. All affected fetuses had severe tricuspid valve regurgitation associated with congestive heart failure and/or cardiac malformations. The decrease in venous systolic forward flow modulates the venous pulsatility indices towards more favorable values and should be considered when fetuses with tricuspid regurgitation are followed by Doppler assessment of the DV. Detection of these changes in the DV flow profile should prompt detailed color Doppler echocardiography with special emphasis on right atrioventricular valve regurgitation.
Abstract: Because of insufficient imaging by maternal transabdominal fetal echocardiography (TAE) in a human fetus with aortic atresia, imperforate atrial septum and progressive cardiac failure, we assessed the feasibility of fetal transesophageal echocardiography (TEE) as a monitoring tool during fetal cardiac intervention at 24 + 6 weeks of gestation. Percutaneous fetoscopic intraesophageal deployment of the ultrasound catheter was achieved and did not result in any maternal or fetal complications. Fetal TEE permitted substantially clearer definition of fetal cardiac anatomy and intracardiac device manipulations than conventional maternal TAE. Despite the employment of various devices, no sufficiently large opening could be achieved within the atrial septum. Although the fetus tolerated the procedure remarkably well and satisfactory fetoplacental flow could be documented at the end of the procedure, the fetus died from progressive cardiac failure 3 days after the intervention. Fetoscopic TEE is feasible in the human fetus and permits substantially clearer definition of fetal cardiac anatomy and intracardiac manipulations than conventional maternal TAE. Based on the observation of spontaneous closure of multiple iatrogenic perforations of the atrial septum, specialized devices are required in order to improve the technical success rate of septoplasty methods and hence the survival odds of these high-risk patients.
Abstract: OBJECTIVE: To evaluate whether abnormal atrial morphology, which is well recognized in autopsy series, is detectable by fetal echocardiographic examination of the four-chamber view, and can therefore be utilized to differentiate left from right isomerism in heterotaxy syndromes. METHODS: This study was a retrospective review of 30 cases with prenatally diagnosed heterotaxy syndromes. Ultrasound video recordings and still images were reviewed with respect to atrial morphology in the four-chamber view. In 25 cases the morphology of both atria was sufficiently well visualized on the recordings to be evaluated and only these were included in the study. RESULTS: Two types of atrial morphology were distinguished in our cohort: a sickle-shape with the tip pointing laterally and apically, and a blunt shape resembling the usual atrial appearance in the four-chamber view. Nineteen out of the 25 cases (76%) presented with isomerism of the atria in the four-chamber view. Thirteen had bilateral sickle-shaped atrial morphology, all associated with left isomerism. Six had bilateral blunt-shaped atrial morphology, all associated with right isomerism. The atria of the remaining six cases were not isomeric, the right atrium being sickle-shaped and the left blunt-shaped. Five of the latter cases were associated with left and one with right isomerism. CONCLUSIONS: The majority of prenatally diagnosed heterotaxy syndromes seem to present with isomeric atrial morphology in the four-chamber view. In these cases a differentiation between left and right isomerism can be based on the two distinct types of atrial morphology. This may further enhance the prenatal differentiation of these syndromes.
Abstract: OEIS complex refers to a combination of defects consisting of omphalocoele, exstrophy of the cloaca, imperforate anus, and spinal defects. The incidence of the OEIS complex is very rare, estimated to occur in 1 of 200,000-400,000 pregnancies. The aetiology of the OEIS complex is still unclear, single defects in blastogenesis and mutations in homeobox genes, such as HLXB9, have been suggested to be responsible for the development of the OEIS complex. Moreover, higher incidence of OEIS in monozygotic twins suggests a possible genetic contribution to the occurrence of this multisystem defect. We here report the peculiar case of OEIS complex in a dizygotic twin pregnancy. Prenatal diagnosis of OEIS by ultrasound examination is possible but difficult. Sonographic detection of an omphalocoele in the presence of an open neural tube defect should prompt a search of OEIS-associated defects. Accurate prenatal diagnosis by ultrasound and/or diagnosis of the OEIS complex at autopsy are important for detailed counselling of the parents and perinatal management.
Abstract: AIM: Foeto-amniotic shunting is an ultrasound-guided, therapeutic intervention for drainage of persistent intracavital fluid retention in severely affected foetuses with a high risk of mortality. In order to weigh up the comparatively high risk of intervention against the possible benefit, we evaluated the value of different indications, the complication rate and the time span of drains in situ. PATIENTS AND METHODS: We made a survey of all level III ultrasound centres of German-speaking countries from 1993 to 2001. Six level III centres returned the questionnaire: forty-seven foeto-amniotic shunting procedures were performed in 30 foetuses [megacystis in 18 foetuses (three of these with urinary ascites), hydrothorax in eight foetuses, hydronephrosis in two foetuses, cystic adenomatoid malformation of the lung in one foetus, ovarian cyst in one foetus]. RESULTS: The median gestational age at time of shunting was 23.5 (range 16 - 33) weeks, at time of delivery 35 (range 23 - 41) weeks. The median time span of drains in situ was 19 (range 0 - 170) days. Altogether 18 of 30 foetuses (60 %) had a benefit of foeto-amniotic shunting. CONCLUSION: The best possible selection of pregnancies which might profit from foeto-amniotic shunting is required. The decisive criteria are the underlying defect as well as the severity and progression of the disorder.
Abstract: OBJECTIVE: This study describes the frequency, pregnancy complications and outcomes of non-trichorionic triplet pregnancies. DESIGN: A retrospective observational study. SETTING: Two tertiary level referral centres of Obstetrics and Prenatal Medicine, Germany. POPULATION: All women booked to receive targeted ultrasound screening between January 1998 and June 2003. The mixed low and high risk population included 36,430 women with ultrasound examinations between 11 and 24 weeks of gestation. Of those with available outcome, 176 were triplet pregnancies with three viable fetuses. METHODS: Analysis of ultrasound data and perinatal outcome in triplet gestations who had first and second trimester targeted ultrasound examination. Pregnancies with monochorionic or dichorionic placentation were identified and pregnancy outcome was compared to trichorionic triplets. MAIN OUTCOME MEASURES: Intrauterine fetal death, fetal growth restriction (FGR), mean discordance and survival rate in non-trichorionic versus trichorionic triplets. RESULTS: Triplets were trichorionic in 81.8% and had a monochorionic or dichorionic placentation in the remaining 18.2%. The rate of monochorionicity and dichorionicity was significantly higher after spontaneous conception than after assisted reproductive technologies (44.8%vs 12.9%, P < 0.001). In non-reduced monochorionic and dichorionic triplets compared with non-reduced trichorionic triplets, there was a higher rate of intrauterine fetal death (8.8%vs 1.5%, P < 0.01), FGR (33.3%vs 25.5%), mean discordance (20.5%vs 12.7%, P < 0.01), discordance >30% (26.3%vs 2.9%, P < 0.01) and delivery <32 weeks of gestations (47.4%vs 32.2%). There was a lower survival rate in non-trichorionic triplets (84.2%) than in trichorionic ones (91.7%). CONCLUSION: Triplet pregnancies with a monochorionic or dichorionic placentation are at significantly higher risk of adverse pregnancy outcome compared with trichorionic pregnancies. First trimester evaluation of chorionicity is strongly emphasised.
Abstract: Newborns and especially preterm infants show a unique susceptibility to severe bacterial infections that cause significant morbidity and mortality. As very few data are available on innate immune functions in human fetuses, we conducted a comprehensive study to investigate the expression of several adhesion molecules essentially involved in migration (CD11a, CD11b, CD11c, CD18, and CD62L). Furthermore, phagocytic activity, generation of respiratory burst products, and production of several proinflammatory cytokines were assessed. Various functions of the fetal innate immune system were demonstrated to be essentially different from those observed in term neonates or adults. Expression of several surface markers was significantly diminished on fetal granulocytes. Furthermore, a significantly reduced phagocytic activity of fetal granulocytes and monocytes was found, contrasted by an enhanced generation of reactive oxygen products. In addition, we demonstrate that significant numbers of fetal monocytes are capable of the production of proinflammatory cytokines in response to stimulation. However, the pattern of cytokine production is different from the more mature individuals: the number of IL-6- and tumor necrosis factor-alpha-positive monocytes were significantly diminished, whereas more IL-8-producing monocytes were found compared with adults. The results of our study add significantly to our understanding of the maturation and impairment of the innate immune response.
Abstract: OBJECTIVE: To improve sonographic birth-weight prediction by developing fetal gender-specific formulae. METHODS: This was a retrospective cross-sectional study. Two gender-specific formulae were produced from the data of 527 patients and the data of a further 349 patients were used to evaluate the formulae. Inclusion criteria were a singleton live fetus, gestational age above 25 weeks, birth weight between 1000 g and 4500 g and fetal biometry within 8 days of delivery. Data retrieval was specifically for the purpose of this study. RESULTS: To yield the best-fit weight formula for each fetal gender we employed step-wise regression analysis based on fractional polynomials with the biometric parameters biparietal diameter (BPD), head circumference (HC), transverse abdominal diameter (TAD), abdominal circumference (AC) and femur length (FL): estimated fetal weight for girls (g) = - 4035.275 + 1.143 x BPD3 + 1159.878 x AC1/2 + 10.079 x FL3 - 81.277 x FL2 [in cm]; estimated fetal weight for boys (g) = 43576.579 + 1913.853 x log10BPD + 0.01323 x HC3 + 55.532 x AC2 - 13602.664 x AC1/2 - 0.721 x AC3 + 2.31 x FL3 [in cm]. These formulae showed superior results compared with those of conventional weight formulae. CONCLUSION: Gender-related fetal weight calculation allows optimized prediction of fetal weight at birth.
Abstract: The uptake of prenatal diagnosis in 436 singleton and 146 twin pregnancies following assisted reproduction was compared with a matched group of spontaneous conceptions. The first and second trimester ultrasound examination included target fetal anatomic evaluation and screening by specific markers described for fetal aneuploidy. Women with assisted conception attended significantly more often for first trimester prenatal diagnosis (57.9 versus 34.9%, P < 0.01), but had fewer examinations in the early second trimester at 15-18 weeks (37.8 versus 48.8%, P < 0.01) than those with spontaneous conception. Screen positive results of 6.5 and 6.9% for first trimester examination and 6.0 and 7.3% for second trimester examination were found in assisted conceptions and controls respectively. A significantly higher rate of invasive prenatal diagnosis was observed in the second trimester for spontaneous conceptions, 20.0 versus 11.8% (P < 0.01) compared with assisted conceptions. This was attributed to the higher rate of invasive procedures in advanced maternal age >/=35 years of 40.7 versus 28.6% (P = 0.01) in spontaneous and assisted conceptions respectively. With the purpose of avoiding invasive testing, women with assisted conception were more likely to use the results of the ultrasound examination to guide their final decision about invasive testing, rather than undergo genetic amniocentesis as a first option.
Abstract: OBJECTIVE: This study was undertaken to test which venous Doppler parameter offers the best prediction of acid-base status at birth in pregnancies complicated by intrauterine growth restriction (IUGR) caused by placental dysfunction. STUDY DESIGN: A prospective cross-sectional Doppler study of IUGR fetuses with abnormal umbilical artery Doppler and birth weight less than the 10th percentile. Absence of atrial systolic forward velocities in the ductus venosus (DV) (DV-RAV) and umbilical vein (UV) pulsations were noted and multiple venous indices were calculated for the inferior vena cava (IVC) and DV (IVC and DV preload index, peak velocity index [PVIV] and pulsatility index [PIV] and the DV S/a ratio). Doppler indices, UV pulsations, and DV- RAV were related to an umbilical artery cord pH <7.20, and a pH <7.00 and/or base deficit greater than -13 (severe metabolic compromise) in neonates delivered by cesarean section without labor. RESULTS: In 122 fetuses all venous Doppler indices were equally predictive of a pH <7.20, with the exception of the IVC PVIV. No Doppler index predicted severe metabolic compromise. Bayesian analysis of individual Doppler parameters showed comparable outcome prediction with the highest sensitivity for the IVC PIV (76%) and the highest specificity for DV-RAV (96%). Combined assessment of the IVC, DV, and UV provided the most accurate outcome prediction. Doppler abnormality in either vessel identified 89% of neonates with pH <7.20 (negative predictive value 92%) and 10 of 11 neonates with severe metabolic compromise. Prediction was most specific (84%) when Doppler parameters were abnormal in all 3 vessels. CONCLUSION: IVC, DV, and UV Doppler parameters correctly predict acid-base status in a significant proportion of IUGR neonates. Combination, rather than single vessel assessment provides the best predictive accuracy. While the choice of Doppler index can be guided by operator preference, familiarity with the examination technique of all 3 vessels is encouraged to offer the highest flexibility in clinical practice.
Abstract: OBJECTIVE: To assess the feasibility of targeted first-trimester ultrasound evaluation in triplet gestations and to report the outcome in reduced and expectantly managed triplets. METHODS: This was a retrospective analysis of 127 triplets at 11-14 weeks with targeted ultrasound examination including nuchal translucency (NT) screening. RESULTS: One or more abnormal findings were observed in 33 of 381 fetuses (8.7%), including increased NT (n = 18), malformations (n = 4), aneuploidy (n = 3), relative intrauterine growth restriction (n = 2) or spontaneous demise (n = 13). Of 63 patients (49%) who chose reduction, selective termination due to abnormal findings was performed in 13 fetuses. The rates of complete abortion <24 weeks were 9.8% and 3.2% for those with expectant management and fetal reduction, respectively. Expectantly managed triplets delivered significantly earlier (31.1 +/- 3.8 vs. 35.6 +/- 3.3 weeks) (P < 0.01) with a lower mean birth weight (1483 +/- 552 g vs. 2305 +/- 557 g) (P < 0.01) and a lower number of liveborn fetuses (85.6% vs. 97.4%) (P < 0.01) than those reduced. CONCLUSION: Targeted first-trimester ultrasound is feasible and reliable in triplet gestations and should be an integral part of the counseling process. It results in more accurate selection for those who consider fetal reduction. Our data further support fetal reduction as a valuable strategy to improve perinatal outcome in triplet pregnancies.
Abstract: OBJECTIVE: To develop and test a new formula for estimating weight in the fetus of < or = 1600 g. METHODS: A formula for sonographic estimation of fetal weight was produced retrospectively from 84 singleton fetuses with a birth weight of < or = 1600 g, examined sonographically within 1 week before delivery. Exclusion criteria were multiple pregnancy, intrauterine death and major structural or chromosomal anomalies. The new formula was then compared prospectively in an evaluation group of fetuses (n = 87) with six currently available equations for estimating weight in the preterm fetus. RESULTS: Stepwise regression analysis with gestational age (in days) and fetal biometric parameters was employed to yield the best-fit formula for predicting fetal weight at birth. The new formula (estimated fetal weight = 5381.193 + 150.324 x head circumference + 2.069 x femur length3 + 0.0232 x abdominal circumference3-6235.478 x log(head circumference)) proved to be superior to established equations. The lowest mean +/- SD absolute error was 66.2 +/- 59 g and the lowest mean absolute percentage error was 7.1 +/- 5.9% SD when studied prospectively in the evaluation group. With the new formula, 48.3% of estimates fell within +/-5% of the actual weight at birth, 73.6% fell within +/-10%, 90.8% fell within +/-15% and 95.4% fell within +/-20%. CONCLUSION: Our new formula is relatively easy to use and needs no adjustment to weight centiles or to fetal lie. It allows reliable weight estimation in the fetus < or = 1600 g.
Abstract: BACKGROUND: Amniotic air insufflation during experimental fetoscopic fetal cardiac interventions greatly improves the visualization of intra-amniotic contents. The purpose of this study was to assess any histologically discernible effects from this approach on the fetal brain after short-term studies and long-term survival in sheep. METHODS: Thirty pregnant ewes between 80 and 110 days of gestation underwent amniotic air insufflation during various fetoscopic fetal cardiac interventions. After 18 short-term and 12 long-term studies, the brains of the operated fetuses and-if available-their unoperated siblings were examined for hemorrhage, embolism, infarctions, inflammatory changes, and abnormal cortical maturation. RESULTS: Amniotic air insufflation during minimally invasive fetoscopic fetal cardiac interventions did not result in any histologically discernible damage to the brain in short-term and long-term studies in any but 2 sibling sheep. In the 2 affected siblings, a small area of chronic cortical frontal lobe infarction was observed after long-term survival. CONCLUSIONS: Amniotic air insufflation during minimally invasive percutaneous fetoscopic fetal cardiac interventions is safe for the fetal brain and does not compromise maternal hemodynamics in sheep. These findings encourage further investigation of the role this technique might play during fetoscopic fetal cardiac interventions in humans.
Abstract: We wanted to evaluate whether improvement in ultrasound equipment in the last 5 years altered our perception of the phases of placental separation during the third stage of labor. We also investigated the influence of active management on the third stage of labor after sonographically verified placental separation. Between January and November 2001, the third stage of labor was examined in 55 women at 37-41 weeks of gestation by color Doppler sonography. The duration of blood flow between the myometrium and the placenta, the latent phase, the detachment phase, and the expulsion phase were measured and compared with the corresponding values of an earlier cohort of 57 patients investigated between November 1994 and August 1995. In the later cohort, both the duration of maternal blood flow and the detachment phase were significantly longer than in the earlier cohort (33 s +/- 48 s vs 0 s, P<0.0001 and 56 s+/-45 s vs 37 s+/-21 s, P<0.01, respectively), whereas the latent phase was significantly shorter (101 s+/-87 s vs 213 s+/-180 s, P<0.0001). There was no statistically significant difference in the length of the expulsion phase or the third stage of labor. The later cohort showed a statistically significantly more frequent multiphasic placental detachment ( P<0.05). Improvement in ultrasound equipment resulted in an earlier detection of the onset of placental separation, leading to a shorter latent phase and consecutively increased duration of the detachment phase, whereas the total duration of the third stage of labor remained unchanged. Furthermore, increased sensitivity of Doppler sonography led to a longer visualization of blood flow between the myometrium and the placenta in the normal third stage of labor.
Abstract: OBJECTIVE: To determine fetal coronary artery peak blood flow velocities in normal and high-risk pregnancies. METHODS: Coronary artery peak systolic and diastolic blood flow velocities were measured by pulsed-wave Doppler velocimetry after identification of the coronary arteries by color Doppler imaging. Peak blood velocities obtained from normal pregnancies were related to gestational age using linear regression analysis. Blood flow velocities in normal fetuses were compared to measurements obtained in various fetal conditions. RESULTS: In normal fetuses coronary artery blood flow was visualized at a median gestational age of 33 + 6 weeks; median systolic and diastolic peak blood flow velocities were 0.21 and 0.43 m/s, respectively, and showed no significant change with gestational age. In growth-restricted fetuses coronary artery blood flow was visualized significantly earlier in gestation (median 28 + 2 weeks); systolic and diastolic peak blood flow velocities were higher at 0.25 and 0.48 m/s, respectively (P < 0.05). The highest coronary blood flow velocities were observed with fetal anemia. Coronary artery blood flow was also measured in fetuses with ductus arteriosus constriction due to indomethacin. Velocities did not differ from normal fetuses. Both in fetal anemia and ductus arteriosus constriction coronary artery blood flow could no longer be visualized with resolution of the underlying condition. CONCLUSION: Examination of coronary artery blood flow dynamics in the human fetus demonstrates acute increases in diastolic velocities in severe anemia and ductus arteriosus constriction based on the severity of the condition. In fetuses with growth restriction increased coronary blood flow velocities can be appreciated throughout the cardiac cycle. Clinical correlation in the interpretation of coronary blood flow dynamics in the human fetus is essential.
Abstract: BACKGROUND: In order to minimize maternal trauma from current techniques for temporary fetoscopic tracheal occlusion, we tried to develop a percutaneous fetoscopic technique in sheep. METHODS: In nine ewes between 77 and 128 days of gestation, the amniotic cavity was entered percutaneously. Each fetus was positioned and the feasibility of fetal laryngoscopy and percutaneous fetoscopic tracheal balloon occlusion was assessed. RESULTS: Percutaneous intraamniotic access, fetal positioning, oropharyngeal sheath insertion, and fetoscopic laryngoscopy were achieved in all nine fetal sheep. Following some technical modifications to the working channel of the fetoscope, percutaneous fetoscopic tracheal balloon occlusion was successfully achieved in the last seven sheep. CONCLUSION: Percutaneous fetoscopic balloon occlusion of the fetal trachea can effectively and safely be achieved in sheep. Because intraamniotic spatial relationships, fetal position, and umbilical cord length are technically less favorable in sheep, our operative techniques might be feasible in humans even if difficult intraamniotic conditions are encountered.
Abstract: OBJECTIVE: Our study analyses the emotional mood of pregnant women and their partners before various prenatal diagnostic procedures (amniocentesis, ultrasound, chorion villus sampling), and their psychological stress both before and after the diagnostic procedures. METHODS: We studied 472 pregnant women and 308 partners. 88 women (18.6%) had an amniocentesis, 344 (72.8%) had ultrasound and 40 (8.5%) a chorionic villus sampling. The German version of the Center for Epidemiological Studies-Depression Scale of Hautzinger and the short questionnaire of actual situative perceived stress of Müller were used. RESULTS: Before prenatal examination, the mean level of depression and strain was equal in women and men in all groups (ultrasound, amniocentesis, chorionic villus sampling). Before the start of the prenatal examination the pregnant women had a significantly higher depressive feature on the depression-scale and significantly higher stress score than their partners. After prenatal examination the couples' stress differed significantly in the three groups for women and for men. Comparing the stress experienced before and after the prenatal diagnosis revealed both for women and men statistically significant differences. DISCUSSION: The individual experience of prenatal diagnosis is not determined by the invasivity of the procedure.
Abstract: A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into 'true tails' and 'pseudotails'. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are presumed to be remnants of the embryologic tail. All other lumbosacrococcygeal protrusions are summarized as pseudotails. Superficially they may resemble true tails. They contain normal or abnormal tissue, e.g. cartilage, lipoma and glioma. We report a case of prenatal diagnosis of a human tail in association with omphalocele, hydrocephalus and antiphospholipid-antibody syndrome resulting in a severe fetal growth restriction. Due to cartilage content the appendage had to be classified as 'pseudotail'. However, anatomical position and the decrease of length observed by consecutive ultrasound examinations at 14 and 21 weeks of gestation was suggestive of delayed regression of a 'true tail'. Furthermore, the association of antiphospholipid-antibody syndrome with congenital malformations is discussed.
Abstract: The objective was to evaluate early cardiac biometry in fetuses with structural cardiac defects between 10 and 17 weeks of gestation using our normative data about fetal heart biometry. A retrospective case series, patients were selected from all cases with congenital heart disease diagnosed between 10 and 17 weeks of gestation in our prenatal unit between 1999 and 2000. A schematic sonographic examination, including nuchal translucency (NT) thickness measurements, was performed and was followed by fetal Doppler echocardiography. The transversal heart diameter, both ventricular dimensions, heart area, heart circumference, thoracic diameter, thoracic circumference, thoracic area, pulmonary trunk diameter and aortic diameter were measured and the cardiothoracic ratios were calculated. Doppler evaluation of the umbilical arteries, ductus venosus and umbilical vein was performed. Fetal karyotyping was obtained by amniocentesis or chorionic villous sampling. During the study period, 31 cases of congenital heart disease between 10 and 17 weeks of gestation were diagnosed. Of these, two fetuses presented with ectopia cordis and six with insufficient cardiac biometric measurements. In the remaining 23 fetuses, different complex abnormalities with a high rate of chromosomal abnormalities (91%) were present. Fetal heart biometry was normal in 22% and abnormal in 78%. NT thickness measurements were performed before 14 weeks of gestation and ten of 12 fetuses (83%) presented with an increased NT. Both fetuses with normal NT showed an abnormal fetal heart biometry. Venous Doppler evaluation was performed in 22 cases and 12 fetuses (55%) demonstrated an abnormal venous Doppler. There were ten fetuses (45%) with normal venous Doppler; in seven of these cases, fetal heart biometry was partly abnormal. This study shows the feasibility of first and early second trimesters' fetal echocardiography and the applicability of cardiac biometry in these instances. In this context, early fetal heart biometry and NT thickness measurements may be complementary methods for the prenatal diagnosis of some major congenital heart defects. In early pregnancy, some cardiac defects like tricuspid valve dysplasia, coarctation of the aorta, aortic stenosis, tetralogy of Fallot or pulmonary stenosis may already show similar changes in the relation of the diameters of the fetal heart and great arteries, as seen in the second trimester. Therefore, evaluating the different cardiac ratios may have a high diagnostic value in early pregnancy.
Abstract: OBJECTIVE: To determine prenatal ultrasonographic features and management of fetuses with body stalk syndrome in singleton and multiple gestations. METHODS: In a retrospective chart analysis we reviewed all cases with body stalk anomaly diagnosed in our prenatal unit between 1994 and 2001. During this time period we adopted a uniform approach to the investigation of cases of body stalk anomaly, including amniocentesis or chorionic villus sampling (CVS) for fetal karyotyping. A general schematic sonographic examination was performed to search for fetal abnormalities and was followed by detailed two-dimensional and color-coded Doppler echocardiography. Nuchal translucency (NT) measurements were performed before 14 weeks of gestation. Postmortem examinations of fetuses were performed following termination by induction with prostaglandin. RESULTS: Eleven fetuses with body stalk anomaly were diagnosed, including two multiple pregnancies complicated by discordant body stalk anomaly. The typical ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis, limb abnormalities, neural tube defects, and a malformed, short umbilical cord with a single artery. None of the fetuses demonstrated craniofacial defects. All placentae that were examined showed evidence of persistence of the extra-embryonic celomic cavity. NT measurements were abnormal in all cases. Fetal karyotyping was normal in ten cases. In one case CVS showed a mosaic trisomy 2 (46,XX/47,XX,+ 2). Selective fetocide was performed in one trichorionic-triamniotic triplet pregnancy in early gestation, which was followed by normal development of the remaining healthy dichorionic-diamniotic twins. In a monochorionic-diamniotic twin pregnancy with one affected fetus ultrasound surveillance showed the normal development of the unaffected twin. CONCLUSIONS: We present a large series of body stalk anomaly, including multiple gestations, with thoraco- and/or abdominoplacental attachment and without craniofacial defects. This specific phenotype may be explained by embryonic maldevelopment. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for patient management. Consequently, this anomaly should be distinguished from other fetal abdominal wall defects.
Abstract: OBJECTIVE: Prenatal diagnosis has psychological effects on the pregnant woman. We studied the state of anxiety levels in 332 pregnant women presenting between the 12th and 20th week of gestation before and after prenatal examination with negative and positive prenatal findings. RESULTS: Prenatal examination produced a positive finding in 37 cases (11.1%). Both before and after prenatal examination pregnant women with a positive finding showed significantly higher anxiety-scales when compared to women with a negative result. After the examination state-anxiety levels were significantly reduced with a negative prenatal scan, whereas anxiety levels remained constant with a positive result. CONCLUSIONS:Prenatal testing for fetal anomalies presents an anxiety-inducing situation for the parents-to-be. If the results are negative, anxiety is reduced. Pregnant women who are confronted with a positive malformation scan show unchanged levels of anxiety after the examination.
Abstract: OBJECTIVE: To evaluate the distribution of Doppler pulsatility index (PI) measurements of the umbilical and middle cerebral arteries in singleton fetuses of women with normal uterine artery blood flow and to construct reference ranges for the cerebroplacental PI Doppler ratio. METHODS: The PI was determined in the mid-portion of the umbilical artery and the mid- or distal segment of the middle cerebral artery in 306 normal singleton fetuses. The cerebroplacental Doppler ratio (CPR) was determined from paired measurements. After determination of the best fit, reference ranges were constructed for each parameter against gestational age (GA). RESULTS: The PI for the umbilical artery had a linear relationship with GA (umbilical artery PI = - 0.0246 x GA + 1.7791, r(2) = 0.4025, P < 0.001). The middle cerebral artery PI and the CPR both showed a quadratic relationship with GA (middle cerebral artery PI = - 0.0058 x GA(2) + 0.3335 x GA - 2.7317, r(2) = 0.2365, P < 0.01), (CPR = - 0.0059 x GA(2) + 0.383 x GA - 4.0636, r(2) = 0.2788, P < 0.001). CONCLUSION: The CPR is not constant throughout gestation. Reference ranges constructed by a standardized Doppler technique may be of benefit in the monitoring of high-risk pregnancies.
Abstract: Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder.
Abstract: We describe the prenatal sonographic diagnosis of femur-fibula-ulna complex at 20 weeks of gestation. On targeted ultrasound examination, a severe malformation of the lower limbs was observed. Further sonographic exploration demonstrated bilateral asymmetrical femoral hypoplasia, hypoplasia of both tibiae, bilateral aplasia of the fibulae and oligosyndactyly of the right hand with absence of the 4th and 5th rays. The prenatal sonographic features and differential diagnosis are discussed.
Abstract: BACKGROUND: In order to minimize maternal trauma from open fetal surgery for prenatal coverage of fetal myelomeningoceles in humans, we assessed the feasibility of a percutaneous fetoscopic approach in sheep. METHODS: In seven ewes between 90 and 100 days of gestation, the amniotic cavity was entered percutaneously. Each fetus was postured and a full-thickness skin lesion was created in the lumbosacral region. Then, the feasibility of covering this lesion with a patch and fetal skin by standard endoscopic suturing techniques (n = 3) or robot assistance (n = 4) was assessed. RESULTS: Percutaneous fetoscopic patch and skin coverage of the full-thickness skin lesion was achieved in six of the seven fetal sheep. Five fetuses survived gestation and were delivered healthy. CONCLUSIONS: Percutaneous fetoscopic posturing and patch coverage of lumbosacral full-thickness skin lesions can effectively and safely be achieved in sheep. This approach promises to provide a substantial reduction of maternal trauma from fetal surgery for myelomeningoceles.
Abstract: Prenatal diagnosis is usually performed in the early weeks of gestation in order to avoid medical and emotional maternal risks in the event of fetal malformation. This study examines emotions such as depression, stress and anxiety in pregnant women and their partners with regard to the week of gestation in which the prenatal diagnosis was made. In total, 452 pregnant women (between 7 and 40 weeks' gestation) and 274 partners participated in this study. The pregnant women were divided into four groups of 113 subjects each according to length of pregnancy (group 1 = 7-15 weeks' gestation, group 2 = 16-18 weeks' gestation, group 3 = 19-23 weeks' gestation and group 4 = 24-40 weeks' of gestation). Depression, stress and Spielberger state-trait anxiety levels were measured before the prenatal examination, and stress and state anxiety were assessed after prenatal examination. Statistical analysis was performed using analysis of variance (ANOVA). After the prenatal examination, the mean values of state anxiety (p = 0.032) and stress (p = 0.030) showed statistically significant differences in the pregnant women. Their partners only showed statistically significant differences in the stress values (p = 0.048) after examination. In conclusion, emotional stress related to the prenatal diagnosis seems to be largely independent of gestational age. Ultrasound scans give the parents-to-be a clearer image of their unborn child, as their perception of the fetus is transformed from that of an anonymous object into an individual.
Abstract: OBJECTIVE: To assess the influence of isolated congenital heart disease (CHD) on fetal venous Doppler blood flow velocity waveforms. METHODS: Doppler flow velocimetry was performed in the inferior vena cava and ductus venosus in 146 consecutive fetuses with antenatally diagnosed CHD. Gestational age ranged between 19 and 39 weeks. Fetuses with isolated CHD without non-immune hydrops fetalis (NIHF) (Group A, n = 89) were separated from seven fetuses showing isolated CHD with NIHF (Group B) and 50 cases complicated by chromosomal or other extracardiac malformations, intrauterine growth restriction or non-cardiogenic NIHF (Group C). The control group comprised 109 healthy fetuses of uncomplicated pregnancies. Individual peak velocity index for veins (PVIV) measurements were converted into their Z-scores (delta values) for statistical analysis. RESULTS: There was no statistical difference between fetuses with isolated CHD (Group A) and controls, for the delta PVIV of neither the ductus venosus nor the inferior vena cava. Statistical analysis revealed significant differences between non-isolated CHD fetuses (Group C) and controls for both vessels. However, in a separate analysis of isolated right heart malformations compared with the remaining isolated heart malformations (Groups A and B), a significant difference was observed for the ductus venosus, but not the inferior vena cava. There was an overall survival of 62%. In Group A, 58% of fetuses survived despite increased PVIV and 22% of fetuses with normal venous Doppler had an adverse outcome. All fetuses with cardiogenic NIHF (Group B) died. CONCLUSION: Doppler studies of the ductus venosus and inferior vena cava in fetuses with isolated CHD do not present sufficient alterations to be a reliable marker for screening purposes for CHD in mid-second- and third-trimester fetuses. Furthermore, venous Doppler did not predict fetal outcome in cases of isolated CHD. Abnormal venous Doppler results were mainly attributable to myocardial dysfunction and also to severe right heart obstruction even in the absence of congestive heart failure. Therefore, venous Doppler studies are clinically helpful in indirectly monitoring cardiac function in fetuses with cardiac malformations.
Abstract: OBJECTIVE: To assess the accuracy of fetal echocardiography in the prenatal diagnosis of cardiosplenic syndromes and the spectrum of associated anomalies. METHODS: This was a retrospective survey of fetuses in our databases over a period of 10 years with postnatally confirmed prenatal diagnosis of cardiosplenic syndromes. RESULTS: In 32 of 35 fetuses the prenatal diagnosis of cardiosplenic syndromes was confirmed postpartum. Twenty-two fetuses had left isomerism. Their main prenatal ultrasound features were interrupted inferior vena cava (n = 21), complete atrioventricular septal defect (n = 15), viscerocardiac heterotaxy (n = 15), persistent bradyarrhythmia (n = 12) and fetal hydrops or nuchal edema (n = 12). Twelve pregnancies were terminated, two fetuses were stillborn and eight infants survived. Ten fetuses had right isomerism. Their main sonographic features were juxtaposition of the descending aorta and inferior vena cava (n = 7), complete atrioventricular septal defect (n = 7), left persistent superior vena cava (n = 6) and viscerocardiac heterotaxy (n = 6). In this group there was one stillbirth, five infant deaths and four survivors. The overall survival rate and spectrum of other cardiac malformations were similar between the two groups. Prenatal diagnosis of other visceral features of cardiosplenic syndromes was inconsistent. CONCLUSION: Cardiosplenic syndromes can be diagnosed with high accuracy by prenatal sonography. A diagnosis of left isomerism should be strongly suggested in the presence of a combination of at least two of the following: (1) complete atrioventricular septal defect or other structural heart disease; (2) interruption of inferior vena cava with azygos continuation; (3) early fetal heart block; (4) viscerocardiac heterotaxy. Right isomerism should be suspected in the presence of a combination of at least two of the following: (1) structural heart disease, namely complete atrioventricular septal defect; (2) juxtaposition of inferior vena cava and descending aorta; (3) viscerocardiac heterotaxy.
Abstract: OBJECTIVE: To review the diagnosis, treatment, and outcome of fetal atrial flutter compared with supraventricular tachycardia. DESIGN: Retrospective review of published reports: 11 papers about fetal tachyarrhythmia published between 1991 and 2002 were selected for review. MAIN OUTCOME MEASURES: All selected studies were analysed for the type of arrhythmia, degree of atrioventricular block in atrial flutter, occurrence of hydrops fetalis, gestational age at diagnosis, first and second line drug treatment, associated cardiac and extracardiac malformations, and mortality of the fetuses. RESULTS: Atrial flutter accounted for 26.2% of all cases of fetal tachyarrhythmias, and supraventricular tachycardia for 73.2%. Hydrops fetalis was reported in 38.6% and 40.5% of fetuses with atrial flutter and supraventricular tachycardia, respectively (NS). Hydropic fetuses with atrial flutter had higher ventricular rates (median 240 beats/min, range 240-300) than non-hydropic fetuses (220 beats/min, range 200-310) (p = 0.02), whereas the atrial rates were not significantly different (median 450 beats/min, range 370-500). Digoxin treatment resulted in a higher conversion rate in non-hydropic fetuses with fetal tachyarrhythmias than in hydropic fetuses (p < 0.001). The overall mortality of atrial flutter was similar to that of supraventricular tachycardia, at 8.0% v 8.9% (p = 0.7). CONCLUSIONS: The prevalence of hydrops fetalis did not differ in fetal atrial flutter and supraventricular tachycardia with 1:1 conduction. There was no difference between the response rate to digoxin in fetus with atrial flutter or supraventricular tachycardia. Mortality was similar in the two types of tachyarrhythmia.
Abstract: AIMS: To study relationships between nucleated red blood cell count (NRBC), persistence of NRBC count elevation and neonatal complications in growth restricted fetuses (IUGR). METHODS: Observational study of IUGR neonates (birthweight < 10th percentile). NRBC's/100 WBC were ascertained in a peripheral blood sample. Subsequent daily samples were analyzed until NRBC's fell < 10/100 WBC. NRBC count and days of NRBC elevation were related to complications (respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), intraventricular hemorrhage (IVH), necrotising enterocolitis (NEC), circulatory insufficiency (CI), day 28 oxygen requirement, mortality). RESULTS: 157/298 IUGR neonates (52.7%) had complications, which were associated with a higher NRBC count and persistence of NRBC elevation (12 vs. 189 NRBC's and 1 vs. 4 days; p < 0.0001 respectively). This relationship applied to each complication. Prematurity was the main determinant of RDS, BPD and mortality, while IVH was related to mechanical ventilation, CI to birthweight percentile and NEC to degree of acidemia. Persistence of NRBC count elevation was a statistical contributor for RDS, CI and mortality and the NRBC count to day 28 oxygen requirement. CONCLUSION: NRBC count elevation and persistent NRBC count elevation are associated with perinatal complications in IUGR. Wide ranges in numbers, complex relationships between triggering factors and impacts of other perinatal variables limit the use of NRBC parameters as predictors of complications.
Abstract: BACKGROUND: Our aim was to test the hypothesis that qualitative ductus venosus and umbilical venous Doppler analysis improves prediction of critical perinatal outcomes in preterm growth-restricted fetuses with abnormal placental function. METHODS: Patients with suspected intrauterine growth restriction (IUGR) underwent uniform fetal assessment including umbilical artery (UA), ductus venosus (DV) and umbilical vein (UV) Doppler. Absent or reversed UA end-diastolic velocity (UA-AREDV), absence or reversal of atrial systolic blood flow velocity in the DV (DV-RAV) and pulsatile flow in the umbilical vein (P-UV) were examined for their efficacy to predict critical outcomes (stillbirth, neonatal death, perinatal death, acidemia and birth asphyxia) before 37 weeks' gestation. RESULTS: Seventeen (7.6%) stillbirths and 16 (7.1%) neonatal deaths were observed among 224 IUGR fetuses. Forty-one neonates were acidemic (19.8%) and seven (3.1%) had birth asphyxia. Logistic regression showed that UA-AREDV had the strongest association with perinatal mortality (R(2) = 0.49, P < 0.001), stillbirth (R(2) = 0.48, P < 0.001) and acidemia (R(2) = 0.22, P = 0.002) while neonatal death was most strongly related to DV-RAV and P-UV (R(2) = 0.33, P = 0.007). UA waveform analysis offered the highest sensitivity and negative predictive value and DV-RAV and P-UV had the best specificity and positive predictive values for outcome prediction. Overall, DV-RAV or P-UV offered the best prediction of acidemia and neonatal and perinatal death irrespective of the UA waveform. In fetuses with UA-AREDV, prediction of asphyxia and stillbirth was significantly enhanced by venous Doppler. CONCLUSION: Prediction of critical perinatal outcomes is improved when venous and umbilical artery qualitative waveform analysis is combined. The incorporation of venous Doppler into fetal surveillance is therefore strongly suggested for all preterm IUGR fetuses.
Abstract: OBJECTIVES: To investigate the effects of small for gestational age (SGA) in preterm infants on growth and development until the age of 22 months. STUDY DESIGN: Seventy-four preterm infants being born SGA (birth weight <10th percentile) were compared with 74 appropriate for gestational age (AGA) infants matched prospectively according to gestational age with respect to growth parameters and neurodevelopment (using Griffiths developmental scores) at the age of 22 months corrected age. RESULTS: Birth weight was significantly lower in SGA-infants compared to AGA-infants (1503 g (430-2205 g) versus 1995 g (680-3300 g); P<0.0001 (median and range)). There were no significant differences regarding the median gestational age (34 weeks), gender distribution, mode of delivery, umbilical artery pH, and APGAR-scores. Mean Griffiths-scores did not differ significantly between both groups (96.7% versus 97.6%). Developmental retardation was diagnosed in 9 SGA-infants versus 10 AGA-infants. Within the total group a positive correlation was observed between gestational age and developmental scoring. Body weight, head circumference, and height were significantly lower in SGA-infants at 22 months corrected age. CONCLUSION: No significant differences regarding neurodevelopmental outcome at 22 months were observed between SGA- and AGA-infants. SGA-infants did not show catch-up growth.
Abstract: During fetoscopic interventions, intraesophageal placement of intravascular ultrasound (US) catheters for fetal hemodynamic monitoring may result in esophageal injury in very small fetuses. Moreover, conventional fetal imaging by the transvaginal or transabdominal routes may be impossible in some high-risk pregnancies. The purpose of our study in sheep was to assess the potential of a phased-array intravascular US catheter for intra-amniotic fetal echocardiography. The catheter was percutaneously inserted into the amniotic cavity in seven pregnant ewes at between 78 to 98 days of gestation and permitted high-quality 2-D imaging of the fetal heart and multimodal Doppler assessment of fetal cardiovascular flows. Fetoscopic examination of intra-amniotic contents after intra-amniotic imaging was finished did not display any injury to intra-amniotic contents. The intra-amniotic imaging approach may provide an effective alternative in humans for monitoring during fetoscopic interventions, and to assess fetal anatomy and hemodynamics in high-risk pregnancies when sufficient images cannot be obtained by conventional routes.
Abstract: OBJECTIVE: Besides a medical point of view, prenatal diagnosis also has psychological effects on the pregnant woman. We studied the state of anxiety before and after prenatal examination with unsuspicious and suspicious prenatal findings. MATERIAL AND METHODS: In a consecutive sample of 332 pregnant women presenting between the 12th and 21st week of gestation for prenatal malformation scan (level three reference centre, Unit for Prenatal Medicine, Department of Obstetrics and Gynaecology, Medical University of Lübeck) we ascertained state and trait anxiety (Spielberger) before prenatal examination and state anxiety after prenatal examination with unsuspicious and suspicious findings. RESULTS: In the sample of N = 332 pregnant women prenatal examination showed a suspicious finding in 37 fetuses (11.1 %) and an unsuspicious finding in 295 fetuses (88.9 %). Before prenatal examination there is no difference (Mann-Whitney-Test, P = 0.286) between the group with negative results and the pregnant women with a positive result for the trait anxiety scale; however, there is a significant difference (Mann-Whitney-Test, P = 0.014*) for the scale of state anxiety. After prenatal examination the evaluation of the state anxiety questionnaire shows a significant (Mann-Whitney-Test, P = 0.000*) difference between pregnant women with an unsuspicious finding and pregnant women with a suspicious finding. State-anxiety is significantly reduced after examination if the prenatal scan is unsuspicious (Wilcoxon-Test, P = 0.000*), but there is no significant difference between pre-and post-examination anxiety if there is a positive finding (Wilcoxon-Test, P = 0.399). Evaluating aspects of anxiety as regards content, it can be demonstrated that before prenatal examination the pregnant women are just as much afraid of a malformation being detected as of it being missed. CONCLUSIONS: Suspecting or knowing about a malformation of the unborn means a complex process of coping and an intense psychosocial strain for a pregnant woman. Besides the fear of a detected malformation the pregnant women state equal fear of a malformation being missed. In contrast to this the immediate feedback of a negative finding during ultrasound examination leads to a significant reduction of anxiety and to an emotional relief for the pregnant woman.
Abstract: Serious complications due to coronary artery fistulae have been described. Most authors recommend early intervention at the time of diagnosis. We present a case of a fistula originating from a dilated left coronary artery and draining into the right atrium, which was diagnosed prenatally by color Doppler echocardiography. During pregnancy, the echocardiographic findings remained unchanged, and there were no signs of heart failure. After birth, the fistula was confirmed by angiography. Additionally, a persistent left superior vena cava draining into the coronary sinus and a very small ventricular septal defect were detected. The fistula was closed successfully by transcatheter coil embolization. At 17 months old the child was in good clinical condition. Prenatal diagnosis of coronary artery fistulae may be possible and may improve perinatal management and outcome.
Abstract: OBJECTIVE: To present normal values of fetal ductus venosus blood flow waveforms during the first stage of labor during and between contractions. MATERIALS AND METHODS: Seventy-eight women between the 37th and 41st weeks of gestation were included in the study. At distinct stages of cervical dilation, blood flow velocity waveforms of the fetal ductus venosus during and between contractions were visualized in fetuses with a normal non-stress test. The pulsatility index for veins, peak velocity index for veins and fetal heart rate were calculated off-line. The means +/- standard deviations (SD) during and between contractions were compared using the Wilcoxon test. RESULTS: Ductus venosus blood flow velocity waveforms were visualized during 331 contractions and 375 episodes of uterine quiescence in 74 of 78 fetuses (95%) during normal labor. The mean +/- standard deviation values of pulsatility and peak velocity indices for veins during contractions were 1.66 +/- 0.85 (median: 1.56, range: 0.29-4.69) and 1.46 +/- 0.65 (median: 1.34, range: 0.26-3.13), respectively. Between contractions the values were 0.48 +/- 0.19 (median: 0.46, range: 0.14-1.00) for the pulsatility index and 0.44 +/- 0.18 (median: 0.42, range: 0.14-1.00) for the peak velocity index for veins. These differences during and between contractions were highly significant (P-value < 0.0001), whereas the fetal heart rate showed no significant differences. CONCLUSION: There are significant differences in fetal ductus venosus blood flow waveforms during and between labor contractions. Further studies should evaluate whether these normal values of the fetal ductus venosus are beneficial for risk evaluation in fetuses with an abnormal non-stress test and/or intrauterine growth restriction.
Abstract: Abnormal flow profiles in the ductus venosus during early pregnancy may aid in diagnosing chromosomopathies, malformations, congenital heart disease, and twin-twin transfusion syndrome in monochorionic twins. Whereas reference values of ductus venosus flow velocities and waveform indices for the late first and early second trimester have been reported in singletons, similar reference values for multiple pregnancies have not been established in this age group. Therefore, the aim of the present ultrasound study in 119 multichorionic and 14 monochorionic multiples in human fetuses between 10-14 weeks of gestation was to establish reference values for ductus venosus flow waveform indices for multiple pregnancies. Data in multiples were compared with those of 607 singletons. Analysis of the ductus venosus (DV) flow velocity waveforms consisted of the calculation of the pulsatility index (PIV) and peak velocity index (PVIV) for veins. Comparing the data of singletons and multichorionic multiples, no statistically significant differences were observed between the two groups in any of the assessed Doppler parameters. The DV Doppler parameters of the 14 monochorionic twins that were analysed separately in order to avoid any potential bias from preclinical twin-twin transfusion syndrome were also found within the normal ranges. In the study population fetal heart rate did neither significantly correlate with PIV nor with PVIV. PIV and PVIV decreased from 10 to 14 weeks gestation. A 2.9% rate of absent or reverse flow during atrial contraction in normal fetuses at 10-14 weeks gestation was found and needs to be taken into consideration when this pattern is defined abnormal in screening tests for fetal chromosomopathies or congenital heart disease.
Abstract: OBJECTIVE: To compare singleton nomograms of the uterine circulation with previously established twin nomograms in the prediction of pre-eclampsia, fetal growth restriction (FGR), and birth weight discordance > or = 20% in twin gestations. METHODS: This was a retrospective analysis of maternal and perinatal data obtained from 256 dichorionic twin pregnancies. The mean uterine artery resistance index was calculated from both sides and the presence and absence of notching was recorded. Cut-off levels for abnormal flow parameters were the 95th centile of reference ranges of either singleton or twin nomograms. RESULTS: According to twin reference values, 14.0% of patients were screen positive, compared to only 3.1% when singleton reference values were used. The sensitivity of abnormal uterine artery Doppler results defined by twin nomograms vs. singleton nomograms was 36.4% vs. 18.2% for pre-eclampsia, 26.7% vs. 9.7% for FGR, 28.9% vs. 7.9% for birth weight discordance > or = 20%, and 26.5% vs. 10.3% for any adverse outcome, respectively. CONCLUSION: Despite using specially constructed twin nomograms, uterine artery Doppler studies in twin gestations had an overall low sensitivity in predicting adverse obstetric outcome. Negative predictive values of uterine Doppler studies in twin gestations are lower compared to those reported in unselected singleton pregnancies, i.e. maternal and fetal complications occur more frequently despite normal uterine artery waveforms. This suggests that there is an additional pathomechanism, causing pre-eclampsia and FGR in twin gestations, that is unrelated to uteroplacental insufficiency.
Abstract: Asplenia associated with situs ambiguus, symmetric liver, bilateral trilobulated lungs, and a complex heart defect was diagnosed on autopsy in a 14-day-old infant. Furthermore, examination of the brain displayed agenesis of the corpus callosum (ACC) with pachygyria and hydrocephalus. The characteristic association of asplenia with visceroatrial heterotaxia is traditionally named after the Swedish pediatrician, Ivemark. Although exceptional, association of Ivemark syndrome with callosal agenesis has been reported recently. The concept of 'developmental fields' describes morphogenetically reactive units of the embryo determining and controlling the development of complex structures in a hierarchical manner. Lateralization defects such as situs inversus, asplenia or polysplenia due to defective left-right axis development, as well as decussation defects such as ACC, are considered as defects of the primary developmental field. Therefore, additional callosal agenesis in Ivemark syndrome may be a coherent and synchronic defect in the primary developmental field rather than a causally independent malformation.
Abstract: Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and revealed other malformations (spina bifida occulta, anal atresia, tracheo-oesophageal fistula, brachydactylia) resulting in the diagnosis of VACTERL association. The prenatal diagnostician should seek histological examination firstly to confirm his findings and secondly to avoid missing associations and inherited malformations.
Abstract: OBJECTIVE: The measurement of fetal ductus venosus blood flow during labor by means of color Doppler sonography. METHODS: 26 women between 37 and 41 weeks of gestation were included in the study. At various stages of cervical dilation (<2 cm, 2-4 cm, 6- 8 cm, and fully dilated) blood flow velocity waveforms of the fetal ductus venosus during and between contractions were studied in fetuses with a negative non-stress test. The Pulsatility index for veins (PIV) and the Peak velocity index for veins (PVIV), respectively were calculated off-line. The mean+/-standard deviation between and during contractions were determined for descriptive analysis. RESULTS: Waveforms were visualized during 139 contractions and 159 episodes of uterine relaxation in 24 of 26 fetuses (92.3%) in normal labor. Three and more waveforms were recorded, in 59.0% during contractions (82/139) and in 57.9% between contractions (92/159), respectively. The mean PIV and PVIV values during contractions were 1.68+/-1.02 and 1.46+/-0.72, respectively. Between contractions the values were 0.49+/-0.21 for the PIV and 0.44+/-0.18 for the PVIV, respectively. CONCLUSION: Ductus venosus blood flow can be visualized in labor. Further studies are needed to establish normal values.
Abstract: We report the prenatal diagnosis of twin-to-twin transfusion syndrome (TTS) at 11 weeks' gestation. The diagnosis was made in a trichorionic quadruplet pregnancy which was conceived after in vitro fertilization and intracytoplasmic sperm injection for male subfertility and transfer of 3 embryos. Growth discordance, oligo/polyhydramnios and abnormal arterial and venous Doppler flows were demonstrated in 2 monochorionic fetuses, while the remaining 2 dichorionic fetuses were unremarkable. Selective fetocide of the donor by intracardiac injection of potassium chloride was followed by the spontaneous demise of the recipient. The pregnancy course remained uneventful until 32 weeks of gestation when the patient developed preterm labor. Two healthy preterm babies were delivered by cesarean section. The diagnostic problems of this early manifestation of TTS are discussed.
Abstract: Prenatal ultrasound today allows the detailed study of small caliber vascular beds including the fetal coronary arteries and the coronary sinus. The coronary circulation is unique because of its critical role in myocardial metabolism and function and its ability to adapt in many fetal conditions. The ultrasound examination techniques for the evaluation of the fetal coronary circulation are presented. Evaluation of the coronary arteries is primarily achieved by color flow imaging and pulsed wave Doppler. Conditions such as fetal growth restriction, anemia, ductus arteriosus constriction and bradycardia are associated with evidence of enhanced coronary blood flow. These findings suggest that short-term autoregulation and long-term alterations in myocardial flow reserve are present in the human fetus. At present, examination of coronary sinus blood flow has limited clinical utility, while increases of the coronary sinus diameter or attenuation of coronary sinus dynamics may provide useful markers of abnormalities of central venous drainage. Abnormal vascular connections between the coronary arteries and the ventricular cavities may be observed in outflow tract obstructive cardiac lesions. In these conditions prenatal detection of coronary fistulae may have a potential impact on outcome and therefore counseling and perinatal management.
Abstract: Fetal intra-abdominal cysts seen on antenatal sonography pose a diagnostic problem as they may have many etiological origins. We present a case of a hepatic cyst measuring 11 x 7 x 7 mm that was diagnosed at 13 weeks' gestation by transvaginal sonography. The cyst increased in proportion with the growth of the fetus. Ultrasound-guided needle aspiration of the cyst at 22 weeks' gestation helped to clearly identify the formerly displaced gall bladder and demonstrated the intrahepatic location of the cyst. The aspirated fluid was identified as bile. After aspiration the fluid reaccumulated rapidly. Shortly prior to delivery the cyst measured 75 x 44 x 46 mm. At 39 weeks of gestation a female infant was delivered by forceps (3610 g; Apgar 9/10/10 at 1, 5 and 10 min, respectively). Increasing cyst size and concomitant feeding problems prompted surgery on the 14th day postpartum. A large hepatic cyst was partially excised and marsupialized, confirming the prenatal diagnosis. The postoperative course was complicated by cholangitis, septicemia and recurrence of the cyst. Therefore Roux-en-Y hepatojejunostomy was performed in the second month of life. The postoperative period was uneventful and the child was doing well at the time of writing.
Abstract: OBJECTIVES: To assess the efficacy of flecainide in the intrauterine treatment of fetal supraventricular tachycardia (SVT) with 1 : 1 atrioventricular conduction. DESIGN: Twenty fetuses (21-35 weeks of gestation) with SVT ranging between 215 and 280 bpm were analyzed retrospectively. Fetuses received flecainide and digoxin as either first, second or third line therapy. Intracardiac blood flow, venous Doppler waveforms and cardiotocograms were evaluated before and after drug induced conversion to sinus rhythm. RESULTS: After initiation of combined flecainide and digoxin therapy, the median time interval until final conversion to sinus rhythm was 5 days (range, 0-14 days). The majority of fetuses (n = 15; 75%) converted to sinus rhythm within 7 days of treatment, whereas the remaining five (25%) showed initial reduction of the heart rate to 160-215 bpm over several days, with restoration of a triphasic venous blood flow pattern before late conversion within 7-14 days after initiation of flecainide treatment. One of these fetuses showed a decrease in fetal heart rate to 160-190 bpm without conversion to sinus rhythm but with resolution of hydrops. All fetuses survived. CONCLUSIONS: Flecainide is safe and highly effective in the intrauterine treatment of hydropic fetuses with supraventricular tachycardia. Conversion into sinus rhythm can be expected 72 h after initiation of therapy but may take up to 14 days. Therefore therapy should be continued beyond 72 h, especially when an initial decrease of fetal heart rate is observed which may represent an early therapeutic response.
Abstract: Chorangioma is a benign angiomatous tumor of the placenta occurring with a frequency of approximately 1 % of all examined placentas. Pregnancies especially with large chorangiomas are frequently complicated by abruptio placentae, premature labour, fetal anaemia, hydrops, cardiomegaly and polyhydramnios. We here report a case of an extremely rare chorangiomatosis. Multiple chorangiomas measuring up to 1.5 cm comprised approximately one third of the placenta. A caesarean section had to be performed at 36 weeks of gestation because of uteroplacental insufficiency with oligohydramnios. Displacement of normal placental parenchyma by chorangiomatosis as a cause of uteroplacental insufficiency is very likely. Colour doppler imaging allows early diagnosis and management of chorangiomas. Thus, in our case early diagnosis of uteroplacental insufficiency was rendered. Principally, early diagnosis of fetal hazard due to myocardial insufficiency of the fetus is feasible. In-utero-endoscopy permits prenatal laser devascularisation of large chorangiomas. In the reported case the pregnancy was closely monitored with colour flow imaging. The diagnosis of uteroplacental insufficiency was established because of abnormal blood flow of the uterine arteries and abnormal fetal heart rate (FHR). At the same time fetal cardiomegaly and pathologic blood flow of the ductus venosus in terms of beginning fetal myocardial insufficiency was recognized. Consequently, caesarean section could be performed opportune.
Abstract: OBJECTIVE: The experience of pregnancy is mainly influenced by the availability of prenatal screening procedures. Previous screening studies focus on somatic abnormalities. The psychological experience of the parents-to-be recedes into the background. The purpose of the present study was to analyze the emotional mood of pregnant women and their partners before and their psychological stress before and after different prenatal screening procedures (ultrasound, chorionic villus sampling or amniocentesis). METHODS: In the study, 140 pregnant women, and, in 108 cases, their partners, were asked to complete questionnaires before and immediately after the prenatal testing. Depending on the applied prenatal procedure, the subjects were assigned to: the invasive group (amniocentesis or chorionic villus sampling) and the noninvasive group (ultrasound group). We used the German version of the Centre for Epidemiological Studies-Depression Scale of Hautzinger and the short questionnaire of actual situative perceived stress of Müller. RESULTS: Before the prenatal examination, the mean level of depression of pregnant women was the highest in the noninvasive group compared to the invasive group, although the between-group difference was not significant. However, for their male partners, the mean level of depression was significantly different between the noninvasive and the invasive groups. Furthermore, women undergoing invasive diagnostic or noninvasive diagnostic procedures were significantly more depressed than their partners. The analysis of the actual stress ratings showed a significant reduction from the prescreening to the postscreening stress for pregnant women and their partners in both groups. CONCLUSIONS: This study reveals that the individual experience of prenatal diagnosis is not determined by the invasiveness of the procedure. Immediate visual presentation of the fetus and confirmation of a normal test result reduce stress that has previously been induced by the prenatal test itself. This contradiction should be discussed with the parents.
Abstract: OBJECTIVES: To study the relationship between prenatal appearance and perinatal outcome of fetuses with hepatic hemangiomata with special emphasis on criteria that may help to improve perinatal management. METHODS: In a tertiary referral center six fetuses with hepatic hemangiomata were evaluated by gray-scale, color, and pulsed wave Doppler ultrasound between 1994 and 2000. Fetal blood sampling was performed in four cases. All data (computerized files and video tapes) were analyzed retrospectively. RESULTS: Two fetuses showed very similar sonographic findings. They had an isolated large ('giant') round hepatic hemangioma (diameter 43 and 68 mm, respectively) supplied by one hepatic artery and drained by one hepatic vein, both of them showing high velocity and low pulsatility blood flow. Fetal blood count and coagulation parameters were normal in one case, whereas the other fetus showed a Kasabach-Merritt sequence with severe thrombocytopenia (10 platelets/nL) and mild disseminated intravascular coagulation. Intrauterine platelet transfusion was performed immediately prior to planned Cesarean delivery. Rapid platelet consumption continued postnatally, requiring several thrombocyte transfusions. Platelet counts stabilized only after tumor resection on the second day of life. One fetus with diffuse neonatal hemangiomatosis developed high-output cardiac failure with hydrops in addition to Kasabach-Merritt sequence (15 platelets/nL), and died following premature delivery. Three fetuses, however, showing an isolated small hyperechogenic hepatic hemangioma (5, 5, and 6 mm in diameter, respectively) did not develop any perinatal complications. CONCLUSION: Large fetal liver hemangiomata and diffuse hemangiomatosis may cause severe perinatal complications, particularly high-output cardiac failure and/or Kasabach-Merritt sequence with severe consumption of platelets and clotting factors and hemolytic anemia. Fetal blood sampling enables the prenatal detection of these potential complications, allowing critical modification of perinatal management such as intrauterine platelet transfusion, especially directly before delivery. In contrast, isolated small hyperreflexic hepatic hemangiomata do not appear to be associated with any of these fetal and postnatal sequelae.
Abstract: OBJECTIVES: To analyze the impact of an estrogen environment on the Doppler variables usually used for differentiation between benign and malignant lesions. METHODS: A total of 142 malignant and 107 benign breast lesions was demonstrated (in 91 premenopausal and 152 postmenopausal patients) by B-mode ultrasound. Intratumoral vessels were visualized by color Doppler and blood flow velocity waveforms were analyzed by pulsed Doppler. The number of intratumoral vessels and the Doppler variables, peak systolic velocity, resistance and pulsatility indices and the peak systolic/diastolic ratio were evaluated in different endocrine milieus represented by menopausal status, phase of the menstrual cycle, intake of oral contraceptives or hormone replacement therapy. RESULTS: In malignant tumors the Doppler variables resistance and pulsatility indices and the systolic/diastolic ratio were significantly higher in postmenopausal women than in premenopausal women. In benign tumors significantly higher values of resistance and pulsatility indices were also detected in post- compared to premenopausal women (P < or = 0.05). In premenopausal patients with benign tumors taking oral contraceptives the number of intratumoral vessels was significantly higher, while resistance index and systolic/diastolic ratio values were decreased compared to patients with spontaneous menstrual cycles. In postmenopausal patients hormone replacement therapy did not influence Doppler variables in the benign or the malignant groups. CONCLUSION: Our results demonstrate a robust influence of menopausal status and oral contraceptives on Doppler variables of breast lesions. We believe it is likely that some of the differences in the Doppler variables found in reports comparing benign and malignant breast lesions were caused by their association with a pre- or postmenopausal status.
Abstract: OBJECTIVE: To evaluate relationships between neonatal intraventricular hemorrhage and altered brain blood flow in preterm growth-restricted fetuses. METHODS: One hundred and thirteen growth-restricted fetuses (birth weight < 10th centile and umbilical artery pulsatility index > two standard deviations above gestational age mean) which delivered prematurely (< 34.0 weeks) were studied. Three expressions of altered brain blood flow were defined: 'brain sparing'= middle cerebral artery pulsatility index > two standard deviations below the gestational age mean, 'centralization' = ratio of middle cerebral artery/umbilical artery pulsatility indices (cerebroplacental ratio) > two standard deviations below the gestational age mean, and 'redistribution' = absent or reversed umbilical artery end-diastolic velocity. Intraventricular hemorrhage was graded after Papile (I-IV) by cranial ultrasound performed within 7 days of delivery. RESULTS: Sixty-seven (59.3%) fetuses had brain sparing, 84 (74.3%) had centralization and 51 (45.1%) had redistribution. Fifteen (13.3%) neonates had intraventricular hemorrhage and were more likely to have a biophysical profile < 6, earlier delivery for fetal indications, lower cord artery pH, HCO3, hemoglobin, and platelets, a 10-min Apgar score < 7 and high perinatal mortality (5/15; 33.3%). No associations between intraventricular hemorrhage and brain sparing or centralization were identified. However, neonates with intraventricular hemorrhage had significantly higher umbilical artery pulsatility index deviations from the gestational age mean and a relative risk of 4.9-fold for intraventricular hemorrhage with redistribution (95% confidence interval, 1.5-16.3; P < 0.005). Multiple logistic regression revealed significant associations between intraventricular hemorrhage and a low 10-min Apgar score (r = 0.30, P < 0.005) and low hemoglobin (r = 0.28), gestational age at delivery (r = 0.25) and birth-weight centiles (r = 0.23) (P < 0.05). No Doppler parameter was identified as an independent contributor to intraventricular hemorrhage. CONCLUSION: While loss of umbilical artery end-diastolic velocity early in gestation significantly increases the risk for neonatal intraventricular hemorrhage, prematurity and difficult transition to extrauterine life remain the most important determinants of intraventricular hemorrhage.
Abstract: A twin-to-twin transfusion syndrome was diagnosed in a monochorionic-diamniotic pregnancy at 18 weeks' gestation without any malformation, especially heart defect. In spite of the aggressive treatment (serial amnioreduction, digoxin treatment) the donor twin died at 25 weeks and twin reversed arterial perfusion (TRAP) sequence developed and was documented by Doppler ultrasound. In the TRAP-twin, the route of the reversed blood flow from the umbilical arteries was as follows: descending aorta, aortic arch, ascending aorta, aortic valve, left ventricle, mitral valve, left atrium, foramen ovale, right atrium, inferior vena cava, ductus venosus; and back to the placenta through the umbilical vein. After a 12-h observation period the twin reversed arterial perfusion sequence disappeared. During this period ultrasound and fetal blood sampling revealed no sign of fetal anemia or disseminated intravascular coagulation in the surviving twin. Based on our observations, we propose, that the death of one of the twins in monochorionic pregnancy can result in twin reversed arterial perfusion sequence, which is an ultimately rare phenomenon in the second trimester. To our knowledge, this is the first reported case of twin reversed arterial perfusion sequence subsequent to the intrauterine demise of one twin in twin-to-twin transfusion syndrome in which the TRAP-twin had no cardiac malformation.
Abstract: OBJECTIVE: To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. DESIGN: A retrospective case series. SUBJECTS: Cases were selected from 79 cases of trisomy 21 diagnosed in our prenatal unit between 1993 and 1999. METHODS: All fetuses had a detailed sonographic anatomic survey and biometry. Doppler of the umbilical and middle cerebral arteries, ductus venosus, inferior vena cava and umbilical vein was performed whenever possible. Two-dimensional echocardiography supplemented by color Doppler flow mapping and spectral pulsed wave Doppler was performed in all cases of fetal hydrops. Fetal karyotyping was obtained by amniocentesis, chorionic villus sampling or fetal blood sampling. In the presence of fetal hydrops a cordocentesis was performed for fetal hematology, biochemistry and TORCH serology. In cases with diagnosis of myeloproliferative disorder, peripheral blast cells were characterized by microscopy, cytochemistry and determination of surface markers. All cases with myeloproliferative disorder were stillborn and subsequently had a postmortem examination performed. RESULTS: During the study period 79 cases of trisomy 21 were diagnosed. Eleven of these had fetal hydrops. Three of these fetuses presented with hepatosplenomegaly and myeloproliferative disorder in the second and third trimesters. In addition, one fetus with sonographic markers of trisomy 21, where karyotyping was unfortunately unsuccessful, presented with hepatosplenomegaly, hydrops and myeloproliferative disorder. In the four fetuses with hepatosplenomegaly and hydrops, serology was negative for congenital infection. The characteristics of blast cells in the peripheral blood smear revealed a myeloproliferative disorder. CONCLUSION: Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious etiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. There is a possibility that a transient myeloproliferative disorder is a more common cause of mid or late-trimester hydrops in cases of trisomy 21 than previously thought. In these hydropic fetuses the prognosis seems to be poor. On the other hand we can speculate that a myeloproliferative disorder and the associated hepatosplenomegaly and/or hydrops may show spontaneous remission or that the transient myeloproliferative disorder may be without any detectable ultrasonographic signs and therefore may be more frequent in utero than realized.
Abstract: Aneurysm of the umbilical cord is an extremely rare vascular anomaly. We report a case of umbilical cord aneurysm with arteriovenous fistula in a fetus with trisomy 18. At 34 weeks' gestation a fetus with suspected intrauterine growth restriction and oligohydramnios was referred to our institution. Ultrasound examination was confirmatory and additionally revealed multiple markers for trisomy 18. In the umbilical cord an aneurysm was diagnosed characterized by a cystic lesion with hyperechogenic rim measuring 18 x 18 x 19 mm in diameter. Color flow and spectral Doppler examinations showed a jet originating from one of the umbilical arteries entering the cystic lesion which appeared to be the dilated umbilical vein. Fetal blood sampling and subsequent karyotyping revealed trisomy 18 (47, XY, +18). The patient elected to terminate the pregnancy. Pathologic examination of placenta and umbilical cord confirmed the prenatal diagnosis of umbilical cord aneurysm and arteriovenous fistula. Histology demonstrated a strongly dilated umbilical vein, one moderately dilated artery and a second, apparently normal artery.
Abstract: OBJECTIVE: To assess the influence of isolated congenital heart disease (CHD) on fetal arterial Doppler blood flow velocity waveforms. METHODS: Doppler flow velocimetry was performed in the umbilical artery and middle cerebral artery in 115 consecutive fetuses with antenatally diagnosed CHD. Gestational age ranged between 19 and 41 weeks. Fetuses with isolated CHD were defined as group A (n = 55), showing cardiogenic hydrops fetalis in six cases; group B included 60 cases complicated by chromosomal or non-chromosomal extracardiac malformation, uteroplacental dysfunction or non-cardiogenic non-immune hydrops fetalis. The control group comprised 100 healthy fetuses of uncomplicated pregnancies. Individual pulsatility index measurements were converted into their Z-scores (delta values) for statistical analysis. RESULTS: In regard to the umbilical artery pulsatility index, 115 fetuses with CHD showed a significantly greater (P < 0.001) difference from the normal mean for gestation (delta values) than the control group. However, 29 of the 33 cases with indices above the 95% reference interval were additionally associated with extracardiac malformations, uteroplacental dysfunction or non-cardiogenic non-immune hydrops fetalis. While fetuses with isolated CHD still showed significantly higher values than healthy fetuses (P < 0.01), only in 4 of 55 (7%) fetuses did the measured umbilical artery pulsatility index exceed the 95% reference interval. There was no significant difference from the control group, in which 4 of 100 cases showed an umbilical artery pulsatility index above the 95% reference interval. Elevated umbilical artery pulsatility indices were seen in only four cases of severe obstruction of the outflow tracts leading to reverse perfusion of the affected great artery and in one case of Ebstein's anomaly with pulmonary insufficiency. Although all four fetuses with isolated CHD and elevated umbilical artery pulsatility index died, 14 of 18 fetuses with lethal outcome had normal pulsatility index values in the umbilical artery. Investigations of the middle cerebral artery blood flow revealed no significant difference between fetuses with and without CHD or any subgroups. CONCLUSIONS: This study shows that arterial blood flow velocity waveforms in fetuses with isolated CHD do not show sufficient alterations to be of diagnostic value. Only in severe outflow tract obstructions due to a 'steal effect' or in significant insufficiencies of semilunar valves leading to an impaired 'wind-kessel function' may the special hemodynamic changes induced by CHD result in a significant increase of pulsatility index in the umbilical artery. In the majority of cases with CHD the increase of pulsatility index of umbilical arterial blood flow velocity waveforms, however, results from extracardiac anomalies, especially uteroplacental dysfunction and chromosomal abnormalities. Furthermore, umbilical artery Doppler sonography is not clinically helpful in predicting fetal outcome.
Abstract: Intracytoplasmic sperm injection (ICSI) provides the only sufficient treatment to overcome severe forms of male infertility. However, male infertility is linked to several genetic problems as an increased number of chromosomal aberrations, cystic fibrosis transmembrane conductance regulator gene mutations, Y-chromosome microdeletions, and androgen receptor mutations. Therefore, these couples are at a higher risk of transmitting genetic problems to their offspring compared to the general population. A proposed increased number of gonosomal aberrations in the offspring possibly results from the ICSI technique itself. This led in general to a worldwide agreement to counsel those couples to undergo invasive prenatal diagnosis in order to exclude chromosome abnormalities, especially gonosomal aberrations. In this paper the genetic risks of these couples and the possible implications of ICSI itself are discussed. Preimplantation genetic diagnosis may be considered a procedure of choice in these cases, but substantial ethical problems arise when such a screening is sought. An alternative procedure of prenatal diagnosis in these couples seems to be 'genetic sonography', i.e. high-resolution ultrasound with measurement of nuchal translucency at the end of the first trimester, and detailed fetal evaluation at 18-22 weeks of gestation.
Abstract: Considering the high incidence of uterine myomata in women in reproductive age, myomata are only found in 2% of all pregnancies. Although they frequently lead to complications in pregnancy, cases of pyomyomata during pregnancy are rarely reported. A 44-year-old gravida 1 in her 26th week of gestation was admitted to the hospital for septic temperatures of unknown cause. A 12-cm leiomyoma with solid structures of heterogenic sonographic pattern and cystic spaces had been documented on a prior first trimester sonogram. The myoma now appeared with the same size but an increased echogenicity of the liquid parts. Ultrasound guided aspiration of the fluid within the myoma showed an infection with Klebsiella pneumoniae. A cesarian section with myo- mectomy confirmed the diagnosis of a pyomyoma.
Abstract: The most common cause of an increase of the hematocrit is secondary to elevated erythropoietin levels. Erythrocytosis is assumed to cause higher blood viscosity that could put the cardiovascular system at hemodynamic and rheological risks. Secondary erythrocytosis results from tissue hypoxia, and one can hardly define what cardiovascular consequences are caused by chronic erythrocytosis or hypoxia. Herein, a novel transgenic (tg) mouse line is characterized that is erythrocytotic because of chronic overexpression of the human erythropoietin gene. These mice grow up well, reaching a hematocrit of about 0.80 in adulthood. Blood volume of adult tg mice was markedly increased by 75%. Unexpectedly, blood pressure was not elevated and cardiac output was not decreased. Still, the adult tg mice showed features of cardiac dysfunction with increased heart weight. In vivo, high-frequency echocardiography revealed marked ventricular dilatation that was confirmed by histologic examination. Furthermore, by transmission electron microscopy, a prominent intracellular edema of the cardiomyocytes was seen. Exercise performance of the tg mice was dramatically reduced, unmasking the severity of their compromised cardiovascular function. In addition, life expectancy of the tg mice was significantly reduced to 7.4 months. Our findings suggest that severe erythrocytosis per se results in cardiac dysfunction and markedly reduced life span.
Abstract: OBJECTIVE: As fetal cardiac tumors are a rare condition, we report the perinatal diagnosis and ultrasound findings of 12 cases. METHODS: In 10 cases the tumors were identified prenatally by fetal echocardiography; gestational age at detection ranged from 22 to 34 weeks. In two symptomatic infants cardiac tumors were diagnosed on the first day postpartum; prenatal ultrasound evaluation at 26 and 38 weeks of gestation did not reveal a cardiac lesion. RESULTS: Six fetuses had singular tumors, in six fetuses they were multifocal. The left ventricle was most often affected. Termination of pregnancy was chosen in three cases, one in association with trisomy 21 and tuberous sclerosis. One intrauterine and three neonatal deaths due to cardiac failure occurred. Histopathologic examination revealed cardiac rhabdomyoma in six fetuses and fibroma in one case. In the five surviving fetuses the size of the tumors spontaneously decreased postpartum. Rhabdomyomata were associated with tuberous sclerosis in four out of 11 cases. CONCLUSION: Cardiac tumors are detectable as early as 22 weeks of gestation. Presenting symptoms may be arrhythmia, dysfunction of the atrioventricular valves, pericardial effusion and fetal hydrops. The most common perinatal diagnosis is rhabdomyoma, which is often associated with tuberous sclerosis. Sequential examination in high risk patients should be considered as most tumors increase in size during pregnancy and may become evident in late second and third trimester of pregnancy. Postpartum, however, regression of tumor size is common.
Abstract: OBJECTIVE: To test the hypothesis that hemodynamic changes depicted by Doppler precede deteriorating biophysical profile score in severe intrauterine growth restriction. METHODS: Intrauterine growth-restricted fetuses with elevated umbilical artery Doppler pulsatility index (PI) > 2 standard deviations above mean for gestational age and birth weight < 10th centile for gestational age were examined longitudinally. Fetal well-being was assessed serially with five-component biophysical profile scoring (tone, movement, breathing, amniotic fluid volume and non-stress test) and concurrent Doppler examination of the umbilical artery, middle cerebral artery and ductus venosus, inferior vena cava and free umbilical vein. For fetuses with a final biophysical profile score < 6/10, progression of biophysical profile scoring, arterial PI and venous peak velocity indices were analyzed longitudinally. Gestational age effect was removed by converting indices to Z-scores (deviation from gestational age mean, in standard deviations). RESULTS: Forty-four of 236 intrauterine growth-restricted fetuses (18.6%) required delivery for abnormal biophysical profile scoring. The median gestational age at entry was 25 weeks and 1 day and at delivery was 29 weeks and 6 days. The median interval between examinations was 1.5 days and the majority had daily testing in the week prior to delivery. Between first examination and delivery, significant deterioration was observed for Doppler criteria (chi-square, P < 0.001) and biophysical parameters (Fisher's exact, P = 0.02) predominantly confined to the week prior to delivery/stillbirth. Doppler variables changed first. In 42 fetuses (95.5%), one or more vascular beds deteriorated, accelerating especially in the umbilical artery and ductus venosus at a median of 4 days before biophysical profile scoring deteriorated. Two to 3 days before delivery, fetal breathing movement began to decline. The next day, amniotic fluid volume began to drop. Composite biophysical profile score dropped abruptly on the day of delivery, with loss of fetal movement and tone. Three principal patterns of Doppler deterioration were observed: (i) worsening umbilical artery PI, advent of brain sparing and venous deterioration (n = 32, 72.7%); (ii) abnormal precordial venous flows, advent of brain sparing (n = 6, 13.6%); and (iii) abnormal ductus venosus only (n = 4, 9.1%). In the majority (31, 70.5%), Doppler deterioration was complete 24 h before biophysical profile score decline. In the remainder (11, 25%), Doppler deterioration and biophysical profile score < 6/10 were simultaneous. CONCLUSION: In the majority of severely intrauterine growth-restricted fetuses, sequential deterioration of arterial and venous flows precedes biophysical profile score deterioration. Adding serial Doppler evaluation of the umbilical artery, middle cerebral artery and ductus venosus to intrauterine growth restriction surveillance will enhance the performance of the biophysical score in the detection of fetal compromise and therefore optimizing the timing of intervention.
Abstract: OBJECTIVES: Cystatin C and beta(2)-microglobulin are established serum markers of renal function in children and adults. In contrast to creatinine, diaplacental exchange is minimal. The aim of the study was to establish reference values in fetal serum and to test their efficiency in predicting postnatal kidney function. STUDY DESIGN: This was a prospective noninterventional study measuring cystatin C and beta(2)-microglobulin by particle-enhanced immunoturbidimetry in excess serum from 129 cordocenteses performed in 84 fetuses. Reference intervals (mean +/- 1.96 SD) were calculated in a subgroup of 54 fetuses without evidence of kidney disease, and these reference values were evaluated in 75 sera from 55 fetuses. RESULTS: Mean cystatin C was 1.66 +/- 0.202 mg/L (upper limit 2.06), and mean beta(2)-microglobulin was 4.25 +/- 0.734 mg/L. Unlike cystatin C, beta(2)-microglobulin decreased significantly with gestational age so that the upper reference limit was 7.19-0.052 x gestational age in weeks. beta(2)-Microglobulin had higher sensitivity (90.0% vs 63.6%) and cystatin C a higher specificity (91.8% vs. 85.5%) for the prediction of impaired renal function; diagnostic efficiency was equal (87.6% vs. 86.1%). Fetuses with impaired renal function at birth or who were aborted for renal malformations had higher cystatin C concentrations than those in a control group. beta(2)-Microglobulin was increased only in fetuses who were aborted. CONCLUSION: Fetal serum cystatin C and beta(2)-microglobulin concentrations may be useful predictors of postnatal kidney function.
Abstract: We report on a female fetus with prenatally suspected hydrometrocolpos. Postnatal evaluation additionally revealed ambiguous genitalia, anorectal atresia, vertebral segmentation anomalies and congenital intestinal aganglionosis. Colostomy was performed, but postoperative recovery was complicated by pulmonary hypertension and renal failure, resulting in death at day 18. Postmortem examination furthermore revealed a small ventricular septal defect, as well as rectovaginal and urethrovaginal fistulae, causing massive dilatation of the septated vagina (hydrocolpos). The possibility of an overlapping VACTERL and MURCS association is discussed.
Abstract: Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.
Abstract: BACKGROUND: An increased incidence of pregnancy complications following assisted reproduction has been reported. The use of uterine artery Doppler ultrasound may aid the prediction of such complications. METHODS: Doppler was performed at 18-24 weeks gestation in 114 singleton and 32 twin pregnancies after intracytoplasmic sperm injection (ICSI) and compared with a control group matched for age, parity and plurality. Outcome variables included gestational age at delivery, prematurity, preterm premature rupture of membrane (PPROM), birth weight, birth weight discordance of >20% in twins, small for gestational age (SGA), mode of delivery, development of pre-eclampsia and placental abruption. RESULTS: Compared with the controls, there were no significant differences concerning uterine Doppler parameters, pregnancy complications and the neonatal outcome, either in singleton or in twin pregnancies. According to Doppler results and/or risk factors by medical history, 42% of singleton ICSI and 39% of spontaneous singleton pregnancies were considered as high risk. In singletons, abnormal Doppler findings were associated with pre-eclampsia in 22% and SGA in 26% of ICSI patients, compared with 33 and 21% in controls; in contrast, 0 and 10% in ICSI and 3 and 6% in controls showed these complications but no risk factors respectively. No correlation was found between PPROM, prematurity, the rate of Caesarean section and pathological Doppler results. CONCLUSIONS: Uterine Doppler examination holds the potential to identify patients with an increased risk for developing pregnancy complications. According to our results, this risk is not elevated after ICSI treatment, therefore the decision of offering an intensified antenatal care should be based on the results of Doppler examination or risks by medical history rather than the mode of conception.
Abstract: BACKGROUND: Cardiac anomalies may be associated with abnormal coronary vascular connections. We report the prenatal diagnosis of ventriculocoronary fistula in three fetuses with associated cardiac anomalies. MATERIALS AND METHODS: Fetal echocardiography was performed in three patients referred for suspected cardiac anomaly. Two-dimensional fetal echocardiography was complemented by color Doppler flow imaging and spectral Doppler in all cases. RESULTS: A ventriculocoronary fistula was diagnosed in three patients referred at 22, 23 and 32 weeks. The first patient had hypoplastic left heart associated with transposition of the great arteries and pulmonary atresia with an intact interventricular septum. The coronary fistula arose from the transposed aorta to the left ventricle. In two patients ventriculocoronary fistula was found in association with pulmonary atresia and an intact interventricular septum. In all cases there was bidirectional flow within the fistula (diastolic blood flow towards the ventricle with reversal during ventricular systole). The pregnancy with hypoplastic left heart with transposition, and one of those with pulmonary atresia resulted in neonatal death and stillbirth, respectively. In the third instance the ventriculocoronary fistula was verified by postpartum cardiac angiography. The infant initially received a Blalock-Taussig shunt, subsequently replaced by a bidirectional Glenn shunt, and was doing well at the time of writing. CONCLUSION: A ventriculocoronary fistula can be identified prenatally by color and spectral Doppler. This anomaly should be sought in fetuses with outflow tract obstructive cardiac lesions and an intact interventricular septum. Prenatal diagnosis allows early angiography postnatally. Delineation of coronary vascular regions may therefore facilitate preoperative planning.
Abstract: OBJECTIVE: To determine the absent side of a single umbilical artery and its association with malformations and abnormal karyotypes. METHODS: We prospectively studied 102 fetuses from 13 to 39 weeks of gestational age with a prenatally identified single umbilical artery. The absent side, pregnancy data, Doppler findings and the perinatal outcome were reviewed. RESULTS: (1) The left umbilical artery was absent in 71 (69.6%) and the right in 31 (30.4%) fetuses; (2) Single umbilical artery as an isolated finding occurred in 59 (57.8%) pregnancies and was not associated with aneuploidy. The mean gestational age at delivery in this group was 38.4 weeks and the mean birth weight was 3047 g. Six (10.2%) fetuses were small for gestational age, all of them with normal umbilical and uterine Doppler findings; and (3) Chromosomal abnormalities were diagnosed in 10 of 43 fetuses with single umbilical artery and congenital malformations. In nine of 10 fetuses with aneuploidy the left umbilical artery was not developed. Absence of the left artery occurred in 21 of 33 fetuses with sonographic anomalies and normal karyotype. Pathologic Doppler measurements of the umbilical artery were found in only one case of nonchromosomal abnormality. CONCLUSION: Our data suggest that in fetuses with single umbilical artery the absence of the left artery is more frequent than the absence of the right artery. The association with additional malformations seems to be equal on each side.
Abstract: OBJECTIVES: Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The structure of the fetal heart was examined in 136 normal singleton fetuses between 10 and 17 weeks of gestation. METHODS: The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, heart circumference, thoracic diameter, thoracic circumference and thoracic area were measured in the four-chamber view during diastole. Diameters of the pulmonary trunk and ascending aorta were obtained in the short axis and long axis view during systole. Ultrasound examinations were performed with a 5.0-MHz transvaginal and/or transabdominal phased-array sector scanner. RESULTS: The four-chamber view and the cross-over of the pulmonary artery and the aorta were adequately visualized in 44% of the fetuses at 10 weeks of gestation, in 75% at 11 weeks of gestation, in 93% at 12 weeks of gestation and in 100% of the fetuses at 13-17 weeks of gestation. Before 14 weeks of gestation transvaginal sonography was superior to the transabdominal sonography in visualization of the fetal heart and great arteries. After 14 weeks of gestation transabdominal sonography accurately demonstrated the structure of the fetal heart. The ratio of right and left ventricle (RV/LV) and the ratio of the pulmonary trunk and aorta (PT/AO) were constant during this period of gestation (approximately 1.00 and 1. 10, respectively). The ratio of the cardiac and thoracic area showed only a slight increase with advancing gestational age, but with significant correlation. The fetal heart rate showed a slow decrease from 167 to 150 bpm in this period of gestation. The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, cardiothoracic diameter ratio, aortic diameter and the pulmonary trunk diameter showed a highly significant linear correlation to the gestational age and the biparietal diameter. CONCLUSION: The advancing quality of ultrasound images allows fetal echocardiography in the first and early second trimester. Our normative data could be the basis of studying the development of cardiac structures in congenital heart disease and it might be helpful in the detection of some congenital heart defects in early pregnancy.
Abstract: Prenatal alleviation of severe fetal aortic valve obstructions by percutaneous ultrasound-guided balloon valvuloplasty has been performed to improve the fate of affected fetuses. The purpose of this study was to analyze the current world experience of these procedures in human fetuses. Data from 12 human fetuses were available for analysis. The mean gestational age at intervention was 29.2 weeks (range 27 to 33). The mean time period between initial presentation and intervention was 3.3 weeks (range 3 days to 9 weeks). Technically successful balloon valvuloplasties were achieved in 7 fetuses, none of whom had an atretic valve. Only 1 of these fetuses remains alive today. Of the 5 remaining technical failures, 1 patient with severe aortic stenosis underwent successful postnatal intervention and remains alive. Six patients who survived prenatal intervention died from cardiac dysfunction or at surgery in the first days or weeks after delivery. Four fetuses died early within 24 hours after the procedure, 1 from a bleeding complication, 2 from persistent bradycardias, and 1 at valvotomy after emergency delivery. Thus, the early clinical experience of percutaneous ultrasound-guided fetal balloon valvuloplasty in human fetuses with severe aortic valve obstruction has been poor due to selection of severe cases, technical problems during the procedure, and high postnatal operative mortality in fetuses who survived gestation. Improved patient selection and technical modifications in interventional methods may hold promise to improve outcome in future cases.
Abstract: The mutation specific for myotonic dystrophy (DM) is an unstable expanded CTG repeat located in the 3'-untranslated region of the myotonin protein kinase gene. Expansion of the CTG repeat shows a positive correlation with the severity of the disease and increases in successive generations of DM patients. Children with the congenital form of DM show the most severe phenotype and have large expansions, usually > 1000 repeats. For pregnant women with DM, prenatal diagnosis of DM may be offered. To reduce the time between chorionic villus sampling or amniocentesis and final results of DNA analysis in these cases, a fast and efficient method has been developed. This method combines direct PCR analyses for normal alleles with a nested PCR system followed by non-radioactive hybridization with a single-stranded probe.
Abstract: OBJECTIVE: The purpose of this study was the characterization of normal and abnormal third stage placental separation using gray scale and color Doppler sonography. METHODS: The third stage of labor was examined in 62 patients using gray scale and color Doppler sonography. After identification of placental basal plate vessels by color Doppler sonography, the placentation site was examined throughout the third stage with combined gray scale and color Doppler mode. Placental separation from the myometrium was defined clinically and correlated to cessation of color Doppler detected blood flow in basal plate vessels. RESULTS: Three sonographic phases of placental separation were: (1) latent = interval between delivery of the fetus and beginning placental separation; (2) detachment = mono- or multiphasic shearing off of the placenta and (3) expulsion = interval between completed separation and vaginal delivery of the placenta. In 57 cases with clinically normal placental separation blood flow between placenta and myometrium ceased immediately after delivery of the fetus during the latent period. In five cases manual or instrumental removal was necessary because of placenta adhaerens in one case and placenta accreta in four cases. The latter showed maternal blood flow from the myometrium deep into the placenta beyond the latent phase. CONCLUSION: Cessation of blood flow between the basal placenta and myometrium following delivery of the baby is the sonographic hallmark of normal placental separation. Persistent blood flow demonstrated by color Doppler sonography is suggestive of placenta accreta.
Abstract: OBJECTIVE: The aim of this investigation was to assess the relationship between abnormal arterial and venous Doppler findings and perinatal outcome in fetuses with intrauterine growth restriction (IUGR). METHODS: Doppler velocimetry of the umbilical artery (UA), middle cerebral artery (MCA), inferior vena cava (IVC), ductus venosus (DV) and free umbilical vein was performed in 121 IUGR fetuses with a UA pulsatility index (PI) > 2 SD above the gestational age mean and subsequent birth weight < 10th centile for gestational age. Groups based on the last Doppler exam were: 1 = abnormal UA-PI only (n = 42, 34.7%), 2 = MCA-PI > 2 SD below the gestational age mean (= 'brain sparing') in addition to abnormal UA-PI (n = 29, 24.0%), 3 = DV or IVC peak velocity index (PVIV) > 2 SD above the gestational age mean and/or pulsatile UV flow (n = 50, 41.3%). Z-scores (delta indices) were calculated for Doppler indices. Perinatal mortality, respiratory distress (RDS), bronchopulmonary dysplasia (BPD), intraventricular hemorrhage (IVH), necrotizing enterocolitis (NEC), circulatory failure and umbilical artery blood gases were recorded. RESULTS: Absence or reversal of umbilical artery end-diastolic flow was observed in 4 (9.5%) of fetuses in group 1, 10 (34.5%) fetuses in group 2 and 41 (82%) fetuses in group 3. A low middle cerebral artery pulsatility index was found in 39 (78%) fetuses in group 3. Multiple regression analysis with gestational age at delivery, delta indices and cord artery blood gas as independent parameters and individual perinatal outcomes as dependent variables was performed. In this analysis the association was strongest with gestational age for each complication. There were no significant differences in Apgar scores between groups. At delivery, 'brain sparing' was associated with hypoxemia and abnormal venous flows with acidemia. Perinatal mortality was highest in group 3 and stillbirth was only observed when venous flow was abnormal. All postpartum complications were more frequent in fetuses with abnormal venous flows. The only statistically significant relation between Doppler indices and outcome was the association between abnormal ductus venosus flow and fetal death (r2 = 0.24, P < 0.05). CONCLUSION: Growth restricted fetuses with abnormal venous flow have worse perinatal outcome compared to those where flow abnormality is confined to the umbilical or middle cerebral artery. In fetuses with low middle cerebral artery pulsatility, venous Doppler allows detection of further deterioration. While abnormal venous flows can be significantly associated with fetal demise, gestational age at delivery significantly impacts on all short-term outcomes.
Abstract: OBJECTIVE: To determine the relationship between fetal coronary blood flow (CBF) visualization in intrauterine growth restriction (IUGR), longitudinal changes in arterial and venous flow velocity waveforms and perinatal outcome. METHODS: A total of 48 IUGR fetuses (abdominal circumference below the 5th percentile for gestational age) with absent or reversed umbilical artery (UA) end-diastolic velocity (AREDV) were examined longitudinally by echocardiography attempting CBF visualization at each examination. Doppler evaluation of the middle cerebral artery, inferior vena cava (IVC), ductus venosus (DV) and umbilical vein (UV) was performed at each examination. Doppler measurements were correct for gestational age by conversion into Z-scores (delta-indices). Doppler results and outcome from fetuses in which CBF was visualized (group 1, n = 20) and those in which CBF was never visualized (group 2, n = 28) were compared. Outcome parameters analyzed included Apgar scores, cord arterial blood gases, perinatal mortality, respiratory distress, bronchopulmonary dysplasia, intraventricular hemorrhage, necrotizing enterocolitis and postpartum circulatory failure requiring pressor support. RESULTS: There was no difference in Doppler indices between groups at study entry. CBF visualization coincides with a significant increase of UA-, IVC- and DV delta-indices. The greatest rate of change was observed for indices in the ductus venosus which occurred in the 24 h preceding CBF visualization. Group 1 fetuses required earlier delivery (median 27 + 4, vs. median 30 + 0), had lower birthweight (682 +/- 305 g vs. 936 +/- 416 g), lower cord pH (7.21 +/- 0.1 vs. 7.27 +/- 0.06) and cord pO2 (13 +/- 4.5 vs. 24.1 +/- 13.5 mmHg) compared to group 2 (all values P < 0.05). Mortality was similar (group 1 = 6/20, 30%; group 2 = 6/28, 21.4%). CONCLUSIONS: In IUGR, fetuses with AREDV and centralization are at high risk for hypoxemia, acidemia and adverse outcome. CBF visualization coincides with deteriorating venous flows. Operator dependence of CBF visualization and the strong association with abnormal venous flow stresses the importance of venous Doppler surveillance in these fetuses.
Abstract: OBJECTIVE: To examine the relationship between umbilical artery (UA) end-diastolic flow and neonatal thrombocytopenia. METHODS: We prospectively examined 115 anatomically normal single fetuses with UA pulsatility indices more than two standard deviations above the gestational age mean and subsequent birth weights below the tenth percentile. Peripheral neonatal platelet counts in fetuses with positive UA end-diastolic velocity were compared with those of fetuses with absent or reversed UA end-diastolic velocity. RESULTS: Sixty-seven fetuses (58.3%) had positive UA end-diastolic velocity and 48 (41.7%) had absent or reversed UA end-diastolic velocity. Three neonates in the positive-flow group and 22 neonates in the absent- or reversed-flow group had platelet counts of less than 100, 000/mm(3) (relative risk 10.2; 95% confidence interval; 3.2, 32.3; P <.001). Absent or reversed end-diastolic velocity had a sensitivity of 88%, specificity of 71%, positive predictive value of 46%, and negative predictive value of 96% for predicting neonatal thrombocytopenia. Neonates with absent or reversed flow also had lower median platelet counts (101,500/mm(3) versus 208,000/mm(3), P <.001), hemoglobin levels (15.1 versus 16.4 g/dL, P <.01), and hematocrits (47.6 versus 51.1%, P <.05), as well as higher nucleated red blood cell counts (191 versus 15 per 100 white blood cells, P <. 001). CONCLUSION: Absent or reversed UA end-diastolic velocity in growth-restricted fetuses is associated with a statistically significant increase in risk of neonatal thrombocytopenia.
Abstract: OBJECTIVE: To report on flow changes in fetal arterial, venous and coronary vessels during bradycardia following cordocentesis. Changes in the fetal circulation in response to acute challenges are incompletely understood. METHODS: Fetal blood sampling was performed at 29 + 4 weeks for chromosome analysis in a fetus with multiple malformations including a complete atrioventricular septal defect with competent atrioventricular valve. The procedure was complicated by a 12-min bradycardia of 57 beats/min. 'Heart sparing' (sudden visualization of coronary blood flow) and 'brain sparing' (increased diastolic velocities in the middle cerebral artery) were demonstrated by Doppler examination despite marked circulatory compromise (regurgitation of atrioventricular valve, increased reverse flow in precordial veins and pulsatile umbilical vein flow pattern) which persisted after normalization of the fetal heart rate. The findings had resolved completely at a full cardiovascular examination 6 h after the bradycardia. Pregnancy termination was subsequently performed for partial monosomy 13q. CONCLUSION: Protective fetal changes producing 'heart sparing' and 'brain sparing' and may be operational during episodes of acute fetal bradycardia.
Abstract: The objective of this study was to investigate the maturational changes of lymphocyte surface antigens during ontogeny from fetuses to adults using the proven whole blood lysis technique. Two-color flow cytometric analysis of lymphocyte surface markers was performed on 20 fetal blood samples obtained by cordocentesis, 70 cord blood and 30 adult blood samples. The leukocyte count and all T-cell subsets were highest in neonates compared to fetuses and declined into adulthood. In contrast, the percentage of CD2+ T cells (fetal blood 57% versus adult blood 82%; p </= 0.001), CD3+ T cells (fetal blood 52% versus adult blood 77%; p </= 0.001), CD4+ T cells (fetal blood 39% versus adult blood 50%; p </= 0.05) and CD8+ T cells (fetal blood 15% versus adult blood 24%; p </= 0.001) showed a significant increase from fetuses to adults. The absolute and relative amounts of B cells were highest in fetuses (fetal blood 547 x 10(6)/l, 18%) followed by a steady decline to adulthood (adult blood 243 x 10(6)/l, 13%; p </= 0.001). The discordance between the absolute and relative size of lymphocyte subpopulations emphasizes the consideration of both variables in the assessment of lymphocyte maturation. The presented data may contribute to a better knowledge of the maturation of the immune system.
Abstract: A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21+2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.
Abstract: Longitudinal observations of tricuspid valve regurgitation were prospectively performed in 22 singleton fetuses with normal anatomy, normal biometry and normal Doppler to determine the characteristics of functional tricuspid valve regurgitation. Tricuspid valve regurgitation was semi-quantified by spatial and temporal Doppler-derived parameters. In 18 cases tricuspid valve regurgitation was part-systolic (early and mid-systolic) and showed little spatial expansion of the jet as examined by colour Doppler flow imaging. In 16 of these 18 cases the maximum velocity of these regurgitant jets was below 2.00 m/s. Four fetuses demonstrated holosystolic regurgitant jets and in addition to the longer duration of these jets, the spatial expansion was also greater and the maximum velocity was slightly higher compared with the part-systolic tricuspid valve regurgitations. Re-examination of the 22 normally grown fetuses showed that tricuspid valve regurgitation was a transient phenomenon. Within a period of one to seven weeks after the diagnosis of tricuspid valve regurgitation, the regurgitation could no longer be demonstrated in any of these cases, including the four fetuses with holosystolic regurgitant jets. Tricuspid valve regurgitation was the only detected abnormality in all of these cases. The fetal outcome of the 22 normally grown fetuses with tricuspid valve regurgitation was unremarkable concerning the evaluated parameters. Although fetal tricuspid valve regurgitation may be a sign of increased preload, afterload or cardiac dysfunction, in most cases tricuspid valve regurgitation is an isolated transient phenomenon with little temporal and spatial expansion; nevertheless in some cases holosystolic tricuspid valve regurgitation may also be an isolated transient finding, and it may be a functional phenomenon.
Abstract: OBJECTIVE: In animals and adult humans sustained supraventricular tachycardia leads to myocardial remodelling and dysfunction, persisting even after drug-induced cardioversion to sinus rhythm. This study was undertaken, to evaluate cardiac function in the human fetus by noninvasive determination of the degree of AV valve incompetence and venous blood flow, in order to enhance understanding of the pathophysiology of fetal supraventricular tachycardia. Furthermore, we wanted to determine the usefulness of these methods in the surveillance of these fetuses before and after drug-induced cardioversion. STUDY DESIGN: Eleven fetuses with supraventricular tachycardia between 24 and 35 weeks of gestation were studied. AV valve regurgitation and venous Doppler waveforms of the inferior vena cava and ductus venosus were evaluated before and after conversion to sinus rhythm. RESULTS: Three different groups of fetuses could be distinguished. The first group consisted of four fetuses with neither signs of hydrops nor AV valve incompetence. Venous indices normalized within one to four days (median 2.5 days) after conversion to sinus rhythm. The second group contained two fetuses with hydrops, but without AV valve incompetence. Their venous indices normalized at the day of conversion and 3 days later, respectively (median 1.5 days). The last group of five fetuses consisted of four fetuses with hydrops and AV valve regurgitation during supraventricular tachycardia. In one fetus with hydrops and supraventricular tachycardia the fetal heart rate was continuously decreased to a level of 160-190 beats/min under drug treatment, but no conversion to sinus rhythm occurred. The venous indices of these fetuses normalized within 12-42 days (median 27 days) after conversion. CONCLUSION: Our data suggest that in sustained fetal supraventricular tachycardia alterations of myocardial function similar to tachycardia-induced 'cardiomyopathy' occur. The severity of tachycardia-induced changes of cardiac function is reflected by the degree and persistence of AV valve incompetence, as well as by alterations of the venous blood flow pattern. Under clinical conditions, the latter can readily and well reproducibly be demonstrated by calculating the venous blood flow indices of the inferior vena cava and ductus venosus.
Abstract: OBJECTIVE: Elevated nucleated red blood cell count in neonatal blood and Doppler-detected circulatory decompensation in fetuses with intrauterine growth restriction are associated with hypoxemia. We sought to determine the relationship between the nucleated red blood cell count at birth and the circulatory status of fetuses with intrauterine growth restriction. STUDY DESIGN: Eighty-four fetuses with elevated umbilical artery pulsatility index values >2 SD above the gestational age mean and a subsequent birth weight <10th percentile were examined serially. Umbilical and middle cerebral artery pulsatility index, inferior vena cava and ductus venosus peak velocity index, and flow pattern in the umbilical vein (umbilical vein constant vs pulsatile) were recorded. Fetuses were grouped as follows, on the basis of the last examination before delivery: 1, elevated umbilical artery pulsatility index only; 2, middle cerebral artery pulsatility index >2 SD below the gestational age mean in addition to abnormal umbilical artery pulsatility index; 3, either peak velocity index >2 SD above the gestational age mean in the inferior vena cava and ductus venosus or pulsatile flow in the umbilical vein, or both. Nucleated red blood cells per 100 white blood cells were ascertained in a peripheral blood sample obtained within 1 hour of delivery with daily follow-up samples until the nucleated red blood cell count was <5/100 white blood cells. RESULTS: Groups 2 (median 38.5, range 1-273) and 3 (median 145, range 2-3180) had higher nucleated red blood cell counts than group 1 (median 8.5, range 1-270) (P <.05 and P <.005, respectively). The persistence of the nucleated red blood cell count elevation was also longer in groups 3 (median 4 days, range 1-19 days) and 2 (median 2. 5 days, range 1-7 days) than in group 1 (median 1 day, range 1-8 days). Neonates in group 3 also had lower platelet count, hemoglobin value, hematocrit value, and white blood cell count. The umbilical cord artery bicarbonate level was the strongest independent determinant of the peak nucleated red blood cell count and persistence of nucleated red blood cell elevation (r (2) = 0.27, P <. 001 and r (2) = 0.47, P <.0001). CONCLUSION: Increasing abnormality of arterial and venous flows in fetuses with intrauterine growth restriction is associated with increasing nucleated red blood cell count at birth. Metabolic acidemia rather than altered PO (2 ) associated with this circulatory state appears to be the main determinant of the rise in nucleated red blood cells.
Abstract: The option of prenatal diagnosis with nuchal translucency measurement at 10-14 weeks of gestation and second trimester targeted ultrasound including fetal echocardiography (genetic sonography) is reported in patients after intracytoplasmic sperm injection (ICSI). From January 1995 to December 1998, 153 consecutive patients, with a mean age of 32.3 years (+/-4.1) and 29. 6% >/= 35 years, who had become pregnant after ICSI, were studied. They attended our unit for first and second trimester sonography. Of these, 67.8% of primigravid and 80.9% of nulliparous women were included. Multiple pregnancy rate was 19.7%; 189 fetuses were screened in total. Due to the introduction of genetic sonography in 1995, the rate of invasive prenatal diagnosis decreased from 74% in 1995, to 48, 36 and 19% in 1996, 1997, and 1998 respectively. Two inherited numerical and structural chromosomal anomalies in clinically healthy children at birth (1.0%) and four major malformations in all liveborn children and late abortions (2.1%) were recorded. The results demonstrate that especially in women of advanced reproductive age with a long history of infertility, detailed genetic sonography may be a reasonable and highly accepted alternative to avoid even the relatively low risks associated with invasive screening procedures.
Abstract: BACKGROUND: Fetal heart block in the second and third trimesters may be caused by transplacental passage of auto-antibodies or cardiac defects. Little is known about the etiology of first-trimester fetal heart block. MATERIALS AND METHODS: Fetal heart block was diagnosed in four patients (negative antibody serology) referred for first-trimester sonographic evaluation of increased fetal nuchal fold thickness with bradycardia. Two-dimensional echocardiography was complemented by color Doppler flow imaging of the fetal heart. Fetal arrhythmia was verified by M-mode, pulsed wave Doppler and/or color M-mode echocardiography. RESULTS: All fetuses had congenital heart disease, atrioventricular valve regurgitation, heart block and edema. Autopsy confirmed heterotaxy in three cases (left atrial isomerism with atrial septal defect; left isomerism with double-outlet right ventricle, great artery malposition and ventricular septal defect. The third case had dextrocardia with atrioventricular canal defect and the fourth case dextrocardia with great artery transposition. CONCLUSION: First-trimester fetal bradycardia may result from heart block of the type associated with complex congenital heart disease. Accelerated edema formation in this setting may be the basis of nuchal edema formation. First-trimester fetal echocardiography offers the potential for early diagnosis and intervention in these cases with poor prognosis.
Abstract: We report the prenatal diagnosis of a transient myeloproliferative disorder suggestive of leukaemia in a fetus with hepatosplenomegaly, hydrops and 47, XY, +21 karyotype. The initial fetal white blood cell count at 26 + 5 weeks' gestation was 190/nl with 70 per cent blast cells. Immunophenotyping of the large blasts revealed surface markers suggestive of an early stem cell differentiation arrest resulting in undifferentiated polyclonal myelopoiesis. The fetal heart tracing showed minimal beat-to-beat variability in the presence of high leukocyte counts. Serial fetal blood sampling showed decreasing blast cells in the peripheral blood and normalization of white blood cell counts. Although there was increasing hydrops, this period was marked by improvement of the fetal heart rate pattern. Finally the fetus developed pancytopenia with increasing hydrops, AV-valvular insufficiency and venous Doppler studies indicative of cardiac decompensation prior to intra-uterine death at 31 + 5 weeks' gestation. Post-mortem examination revealed marked liver and splenic necrosis without evidence of residual leukaemic infiltration in any organ. Fetal hydrops and hepatosplenomegaly may indicate an underlying haematopoietic disorder warranting further investigation. Furthermore, this case indicates that transient abnormal myelopoesis may result in a fulminant clinical picture much like true leukaemia. This may be due to increased vulnerability of the fetus or represent a disease mechanism unique to fetuses with chromosomal abnormalities.
Abstract: Vasa praevia is a rare complication of pregnancy associated with a high fetal morbidity and mortality. As planned caesarean section can circumvent fetal risks, early detection of vasa praevia is desirable. Antenatal diagnosis by ultrasound by visualisation of vasa praevia may be difficult by transvaginal sonography alone due to an unfavourable angle of insonation. Combination of transabdominal and transvaginal sonography is superior in imaging the placental type, location, insertion of the cord and vasa praevia. We present four cases of antepartum and one case of intrapartum diagnosis of vasa praevia in singleton pregnancies using transabdominal and transvaginal colour coded Doppler sonography. A bipartite placenta with normal cord insertion was found in three cases and with velamentous insertion of the cord in one case. One case had a partially membranous placenta with velamentous insertion of the cord. From the site of cord insertion fetal vessels were coursing over the internal cervical os and then continued in an amniotic sheet to the main placental mass on the opposite uterine wall.
Abstract: Anomalies of venous return due to absence of the ductus venosus have been described in the literature. This is a report of the prenatal diagnosis of two cases of isolated ductus venosus agenesis occurring at 20 and 37 weeks' gestation, confirmed postnatally by color-coded Doppler sonography. In both cases the hepatic veins assumed the function of the ductus venosus without compromising fetal hemodynamics or causing hydrops. In the first case, a healthy female infant was delivered at term. In the second case, a 46,XY,dup(8) (q21.1q22)[35]/47,idem, + r(8)[15] karyotype was diagnosed by amniocentesis. The male newborn showed facial anomalies, a bell-shaped thorax and increased intermamillary distance. There was muscular hypotonia, delayed psychomotor development and an inspiratory stridor leading to obstructive nocturnal dyspnea. On the basis of our observations in these two cases and previous reports from animal studies, we conclude that absence of the ductus venosus may be compatible with normal fetal development without relevant disturbance of circulation and oxygenation.
Abstract: The aim of this study was to demonstrate coronary sinus blood flow in the human fetus by color Doppler imaging and pulsed wave Doppler sonography and to determine the feasibility of using Doppler ultrasound for routine investigation. Visualization of the coronary sinus blood flow by color Doppler imaging was attempted in 84 fetuses with appropriate growth and normal cardiac anatomy, and in which right or left lateral four-chamber views could be obtained (median gestational age, 32 + 5 weeks). After successful identification, examination of the flow velocity waveform and measurement of peak blood flow velocities by pulsed wave Doppler were attempted. Detection of coronary sinus blood flow by color Doppler imaging was possible in 48 fetuses (57.1%) at a median gestational age of 30 + 3 weeks. Pulsed wave measurements were successful in only 11 fetuses (13.1%) (median gestational age, 34 + 2 weeks). The flow velocity waveform is triphasic with antegrade flow towards the right atrium during systole and diastole and reverse flow during atrial contraction. Peak blood flow velocities during diastole were higher (median, 0.38 m/s) than during systole (median, 0.18 m/s); median peak velocity during atrial contraction was -0.05 m/s. Measurement difficulties were due to small fetal size and interference caused by intra-atrial blood flow and/or atrioventricular valvular movement. Demonstration of coronary sinus blood flow by color Doppler imaging is possible in the human fetus. However, pulsed wave Doppler measurements are infrequently obtained, making this study for routine assessment of myocardial blood flow unfeasible.
Abstract: Trisomy 16 is the most frequent autosomal anomaly seen in early spontaneous abortions, accounting for 15 per cent of all chromosomally abnormal early spontaneous abortions. This trisomy is thought to be lethal in the non-mosaic state and incompatible with full fetal development. We report a case of placental trisomy 16 mosaicism detected after chorionic villus sampling (CVS). The patient was referred at 18 weeks of gestation on account of moderate intra-uterine growth restriction (IUGR). Detailed sonography showed a thickened and enlarged placenta with multiple 'cysts', polyhydramnios, a single umbilical artery and a small ventricular septal defect (VSD). CVS, amniocentesis (AC) and fetal blood sampling (FBS) were performed. After direct preparation of chorionic villi only 47,XX,+16 cells were seen. However, chromosomal analysis of cultivated amniotic fluid cells and fetal lymphocytes only showed a normal karyotype 46,XX. After direct preparation of a second CVS at 19 + 4 weeks of gestation the karyotype 47,XX+16 was confirmed in the contralateral part of the placenta and near the insertion of the umbilical cord. A normal female karyotype 46,XX was demonstrated by extensive karyotyping of various sites of the placenta, the neonatal skin fibroblasts and lymphocytes postnatally. In accordance with this observation the multiple 'cysts' of the placenta disappeared in the third trimester. We speculate that the sonographic findings of multiple round placental 'cysts' without a hyperreflective border may be caused by the trisomic cell lineages and therefore may be a sonographic marker of trisomy 16.
Abstract: An ovarian hyperstimulation syndrome (OHSS) in spontaneous pregnancies is a very rare event. Hence, clinicians might make wrong decisions, such as laparotomy, because of suspicion of an ovarian carcinoma, or severe complications such as renal insufficiency may develop because the diagnosis and treatment of OHSS are delayed. Here we report a case of a woman in the 15th week of gestation, presenting with a partial hydatidiform mole and a triploidy of fetus and placenta, with an ongoing and severe OHSS even after legal induced abortion. A low vascular endothelium growth factor (VEGF) concentration (50 ng/ml) was measured when human chorionic gonadotrophin (HCG) exceeded 1000 IU/l and was followed by VEGF concentrations >900 ng/ml, when the OHSS developed. The literature on spontaneous pregnancies associated with OHSS is reviewed, and possible reasons for the clinical course presented in this study and the reviewed reports are discussed. The findings in this case contribute to our theory that VEGF is a causative factor of OHSS, but has no impact on the course of this disease.
Abstract: This study intended to develop a molecular biological method for the determination of the rhesus blood type through the genome of amniocytes. Using micropipettes amniocytes were isolated under a stereomicroscope from amniotic fluid samples. Single or several (> or = 10) amniocytes, respectively, were pipetted into 0.2 ml vials each, and were lysated at 65 degrees C for 15 min using an alkaline solution making the DNA accessible to polymerase chain reaction. Thereafter, the rhesus D gene as well as the CE gene were amplified with nested primers in two subsequent PCR. Finally, the amplification product was electrophoretically analyzed using agarose gel. When single aminocytes were analysed the amplification rate was 64% for the rhesus D gene, and 80% for the rhesus CE gene; "allele specific non amplification" was observed in 24% of cases. With 10 or more amniocytes per vial the amplification rate was 100%. This method permits to reliably predict the fetal rh-type at low costs within about 4 hours.
Abstract: OBJECTIVE: The purpose of this study was to determine the prevalence and the characteristics of functional pulmonary valve regurgitation in normally grown fetuses. DESIGN: A prospective cross-sectional study. SUBJECTS: A total of 1115 singleton fetuses between 18 and 41 weeks of gestation and who had normal heart anatomy, normal estimated weight for gestational age and normal flow velocity waveforms in the umbilical and middle cerebral arteries and umbilical vein were examined. Cases with agenesis, constriction or other abnormalities of the ductus arteriosus were excluded. METHODS: Examination of the pulmonary valve was performed by color Doppler echocardiography, pulsed wave Doppler and, if necessary, continuous wave Doppler in the short-axis view at the level of the origin of the great arteries and/or in a subcostal view of the right ventricular outflow tract and pulmonary trunk. If pulmonary valve regurgitation was detected by color Doppler flow imaging and confirmed by pulsed wave Doppler echocardiography, the maximum velocity of the regurgitant jets as well as their maximum lengths were measured. RESULTS: The prevalence of functional pulmonary valve regurgitation was 0.54% (n = 6). Pulmonary valve regurgitation was part diastolic in four cases and holodiastolic in two cases, with maximum velocity of < or = 2.05 m/s and maximum length of 3-8 mm. Prenatal re-examination of five of the six fetuses with pulmonary valve regurgitation showed that pulmonary valve regurgitation was a transient phenomenon in four cases. The fetal outcome in the presence of transient pulmonary valve regurgitation was normal; pediatric echocardiographic examination in these six fetuses with transient pulmonary valve regurgitation showed no regurgitations or other cardiac anomalies. CONCLUSIONS: Pulmonary valve regurgitation was functional in all six fetuses.
Abstract: The coronary circulation is the major determinant of myocardial oxygen balance which in turn is necessary for adequate cardiac function under a variety of conditions. Experiments in the fetal lamb suggest short-term functional coronary autoregulation in response to increase in afterload and acute hypoxemia. Long-term, acute-on-chronic hypoxemia is associated with a marked increase of maximal myocardial flow reserve suggesting coronary vascular angio-neogenesis during the period of chronic hypoxemia. In the human fetus, flow velocity waveforms from the coronary arteries may be obtained by color-coded and pulsed wave Doppler sonography in normally developed fetuses from 31 weeks of gestation onwards under favorable imaging conditions. Coronary blood flow may also be visualized in selected fetuses with intrauterine growth restriction, absent or reversed end-diastolic flow in the umbilical artery, cephalization of blood flow and abnormal flow patterns in the precordial veins and the umbilical vein. In these fetuses visualization of coronary blood flow may be possible as early as 26 weeks gestation and is consistently associated with a significant increase in the peak velocity index for veins in the ductus venosus. In this circulatory state, visualization of coronary blood flow is suddenly very easy. This "visualization threshold" may be a sign of maximal increase in coronary blood flow in an attempt to "spare" the fetal heart of hypoxemia. Although highly operator dependent, demonstration of coronary blood flow in intrauterine growth restriction identifies fetuses at high risk for intrauterine fetal death and postpartum circulatory failure.
Abstract: Several syndromes and aneuploidies are associated with ocular abnormalities including up- and down-slanting palpebral fissures. We describes a technique for the sonographic assessment of the fetal palpebral fissure slant which was used in 70 normal pregnancies from 14 to 36 weeks of gestation. In a frontal view of the fetal face, the inferior angle between the palpebral fissure and the midline of the skull was determined. The median angle was 89 degrees, with a range from 87 degrees to 90 degrees. In selected cases, sonographic assessment of the fetal palpebral fissure slant may be a helpful additional tool in the prenatal diagnosis of syndromes, as demonstrated in a fetus with Seckel syndrome associated with downslanting palpebral fissures and in a fetus with Down's syndrome associated with upslanting palpebral fissures.
Abstract: This longitudinal observational study evaluates the stage at which coronary flow can be visualized by color-coded and pulsed wave Doppler sonography in fetuses with normal cardiac anatomy. Fetal biometry, echocardiography and Doppler examination of the umbilical and middle cerebral arteries, ductus venosus, inferior vena cava and umbilical vein were performed in 109 cases. Fetuses were divided into five groups based on the Doppler examination of the umbilical artery, birth weight and the ability to visualize coronary blood flow. Coronary blood flow was identified in six of 55 fetuses with normal growth who had normal Doppler studies and perinatal outcome. In these, visualization of coronary blood flow was possible after 31 weeks' gestation at a median gestational age of 37 weeks. Coronary blood flow was also visualized in ten of 54 fetuses with severe intrauterine growth retardation and highly pathological flow velocity waveforms in all vessels soon after a significant increase of venous indices in the inferior vena cava and ductus venosus. In these cases, coronary blood flow was identified at a significantly earlier gestational age (median 27 weeks). These fetuses had a poor perinatal outcome (average birth weight less than 3rd centile, mortality rate 50%, significantly lower umbilical artery blood pH and Apgar scores after 1 and 5 min). Intrauterine fetal death occurred in five fetuses after a median of 3.5 days following visualization of coronary blood flow. Median coronary peak blood flow velocities in the right coronary artery were higher in intrauterine growth-retarded than appropriate-for-gestational-age fetuses.
Abstract: The technique of external version of breech presentations has been proposed as a tool to reduce morbidity of fetus and mother. 79 cases of a 3 year period were evaluated aiming at identification of risk factors improving the success rate of the intervention. A total of 48% of attempts was successful. The most frustrating single factor was identified to be the oligohydramnion. Posterior implantation of the placenta improved the rate to 61%. The umbilical cord being localized by coloured Doppler had little influence even if positioned around the neck as neither success nor complications were predictable in this case. Maternal adipositas had a negative influence on the success rate. Perinatal morbidity war not increased in the group of external versions.
Abstract: The aim of this study was to assess the prevalence and clinical significance of fetal tricuspid valve regurgitation. In a cross-sectional study, 289 normally grown singleton fetuses with normal heart anatomy, normal estimated weight for gestational age, normal amniotic fluid volume and normal flow velocity waveforms in the umbilical and middle cerebral arteries and umbilical vein were examined. A further 31 singleton fetuses with intrauterine growth retardation (estimated fetal weight below the 3rd centile) were analyzed. Semiquantification of the tricuspid valve regurgitation by spatial and temporal parameters was performed in the four-chamber view by color Doppler flow imaging and by color Doppler M-mode echocardiography (M-Q mode). The prevalence of fetal tricuspid valve regurgitation among normally grown fetuses was 6.23% (n = 18). In all cases, the tricuspid regurgitation was part-systolic (non-holosystolic, early and mid-systolic tricuspid regurgitation) and showed little spatial expansion of the jet as examined by color Doppler flow imaging (no jet reached the opposite atrial wall, the area of tricuspid regurgitation being less than 25% of the atrial area). The maximum velocity of the regurgitant jets was below 2 m/s with one exception. There was no statistically significant correlation between gestational age and occurrence of tricuspid regurgitation (U test, p > 0.05). Re-examination of 14 of the 18 fetuses with tricuspid regurgitation showed that tricuspid regurgitation was a transient phenomenon in these instances. The fetal outcome in the presence of tricuspid valve regurgitation was normal. Regurgitations of the mitral, pulmonary and aortic valves were excluded in all 289 fetuses. Only two of the 31 fetuses (6.45%) with intrauterine growth retardation showed tricuspid valve regurgitation. In one fetus the tricuspid regurgitation ws only part-systolic. In the other severely compromised fetus with highly abnormal flow velocity waveforms in the arterial and venous side of the fetal circulation, cardiac dilatation with holosystolic tricuspid and holosystolic mitral regurgitation occurred immediately before intrauterine death. Fetal tricuspid valve regurgitation was a frequent finding during Doppler echocardiography. Although it may be a sign of increased preload, afterload or cardiac dysfunction, in most cases tricuspid valve regurgitation is an isolated transient finding with little temporal and spatial expansion, and it may be physiological.
Abstract: Studies in the fetal lamb and human fetus demonstrated that, in the late stage of supraventricular tachycardia, myocardial dysfunction (tachycardia-induced 'cardiomyopathy') may appear and even persist after drug-induced conversion to sinus rhythm. The objective of this study was to verify whether these changes in cardiac function are reflected in the venous system. In seven fetuses with supraventricular tachycardia (five with hydrops and four of these with atrioventricular valve incompetence during tachycardia) between 24 and 33 weeks of gestation, spectral Doppler analysis of flow velocity waveforms in the inferior vena cava and the ductus venosus was performed before and after drug-induced cardioversion, and was compared with reference values known from the literature and our own indices obtained in 129 normal pregnancies. After drug-induced conversion from supraventricular tachycardia to sinus rhythm associated with a change from a pulsatile to a normal biphasic forward venous blood flow pattern, abnormal venous indices resulting from increased reverse blood flow during atrial contraction persisted for 2-42 days (median 12 days). Severe functional tricuspid insufficiency can lead to a significant decrease in the systolic peak velocity with deterioration of the venous blood flow indices. In the first days after supraventricular tachycardia, rapid changes in these indices seem to depend predominantly on the decrease of tricuspid insufficiency and the increase of the systolic peak velocity. In addition to the persistence of atrioventricular valve regurgitation, abnormal indices of venous blood flow during sinus rhythm indicate the existence of altered myocardial function, suggesting reversible tachycardia-induced 'cardiomyopathy'. Blood flow indices in the venous system seem to reflect changing myocardial function very sensitively and rapidly and, therefore, appear very useful in the surveillance of the fetus with tachyarrhythmia under drug therapy, especially with regard to the assessment of cardiac function at the time of cardioversion and in the period after supraventricular tachycardia.
Abstract: Chromosomal analyses were performed in 36 fetuses with cardiac anomalies diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestation. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies, including five with Turner's syndrome, seven with trisomy 18, four with trisomy 21 and one with triploidy. The commonest cardiac anomaly observed in trisomy 21 was a complete atrioventricular canal; in trisomy 18 was ventricular septal defect; in Turner's syndrome was a hypoplastic aortic arch in combination with hypoplasia of the left ventricle and left ventricular outflow tract; and in the case of triploidy was a ventricular septal defect. These findings confirm the opinion that, in fetuses with chromosomal anomalies, there is a high incidence of cardiac defects. Furthermore, there is a distinct pattern of cardiac defects associated with each chromosomal anomaly.
Abstract: Owing to the widely different levels of experience of examiners, there is a large discrepancy in study results of second trimester ultrasound screening for fetal malformations, which is a result of varying levels of obstetric scanning expertise prevalent at the reporting centre. This holds particularly true for the prenatal diagnosis of congenital heart disease where detection rates ranging from 0 per cent to 60 per cent are being reported. On the other hand, congenital heart disease affects about 4-8 per 1000 live births and is a leading cause of infant mortality, whereas prenatal diagnosis could possibly prevent death and long-term morbidity in some of these neonates. Various screening concepts for more effective detection of congenital heart diseases are analysed in this article, including the more recent technique of early echocardiography between 13 and 15 weeks of gestation. High-risk groups are defined and the group of fetuses with increased thickness of nuchal translucency seems to be of particular interest.
Abstract: We performed histological examinations on 75 patients in whom a breast lesion was identified by mammography or clinical examination. We found 35 malignant and 40 benign lesions with an average size of 16 mm. In 57 cases (76%) a lesion was identified preoperatively by the use of ultrasound. Blood flow of sufficient magnitude to be visualized by Colour Coded Doppler was only detectable in 22 cases of which 20 turned out to have a malignant lesion. Thus the detection of blood flow by Colour Coded Doppler in a small breast lesion may be considered as a sign of malignancy. However the absence of such blood flow should not be considered as an indicator of a benign lesion. At the same time we would like to point out that the detection of blood flow is also dependent on technical factors of the equipment used.
Abstract: The management of a pregnancy complicated by uterus myomatosus remains being controversially discussed. Myomectomy early in pregnancy is opposed by exspectative management with myomectomy subsequent to the post partum period. Therapeutic abortion and exstirpation of the gravid uterus represent only hypothetical but not reasonable alternatives. Complications like ureteral obstruction, sepsis, and torsion of the uterus with subperimetrial bleeding as a cause of fever of unknown origin may occur. Rapid growth of a fibromatous uterus in pregnancy may call for a biopsy. Two cases are presented to demonstrate that with intensive pregnancy surveillance exspectative management is justified and may lead to successful confinement of the pregnancy.
Abstract: We report four cases of uteroplacental insufficiency with severe intrauterine growth retardation in which coronary blood flow was demonstrated by means of color-coded and pulsed wave Doppler sonography. Intrauterine fetal compromise was indicated by pathological uterine and umbilical flow indices and decreased impedance in the cerebral vasculature. Later, this was followed by normalization of middle cerebral artery Doppler indices in one case. The latter change was associated with abnormal atrial systolic reverse blood flow initially in the inferior vena cava, then in the ductus venosus and finally resulting in pulsatile flow in the umbilical vein. In the late stage of fetal deterioration pulsatile flow in the umbilical vein was replaced by a biphasic flow pattern. In two cases coronary flow was visualized preceding intrauterine fetal death. In the two other cases a severely growth retarded newborn was delivered by Cesarean section. The postnatal course was complicated by a prolonged period of circulatory insufficiency and renal failure and in one case by a persistent ductus arteriosus. Visualization of fetal coronary blood flow in severe uteroplacental insufficiency could be a preterminal event when urgent delivery may be warranted.
Abstract: BACKGROUND: In newborn the finding of adrenal gland hemorrhage is not uncommon. Only few cases of prenatal diagnosis of fetal adrenal bleeding by sonography have been reported. CASE: In a 28-year-old nulliparous pregnant woman, routine sonography performed in 35 + 2 weeks of gestational age showed a cystic mass on the upper pole of the right kidney of a male fetus with normal biophysical profile and Doppler flow indices. Sonographic examination demonstrated a spontaneous remission within 3 weeks after uncomplicated vaginal delivery. CONCLUSION: In the management of adrenal gland hemorrhage of the fetus or newborn, control of remission by sonography is a sufficient tool for differentiation against other tumors and is helpful in preventing unintended surgical removal of the adrenal gland.
Abstract: Germinal matrix intraventricular hemorrhage has rarely been observed in the fetus. In most cases the etiology is clear. We report one case of prenatal diagnosis of a periventricular hemorrhage of uncertain etiology in a fetus of 22 weeks' gestation. For confirmation of the ultrasound diagnosis, antenatal magnetic imaging was performed. A male child was delivered in good condition at 37 weeks by Cesarean section. Postnatal ultrasound examination showed a cystic lesion in the right frontal lobe (10 x 10 mm) connecting with the right lateral ventricle. The development of the child at 18 months of age has been normal without any neurological impairment.
Abstract: We report a case of a singleton pregnancy with severe intrauterine growth retardation diagnosed at 24 + 0 weeks' gestation. Pulsed wave Doppler sonography revealed unilateral elevation of the pulsatility index with a diastolic notch in one uterine artery in association with reversed end-diastolic flow in the umbilical artery. From 24 + 3 weeks onwards there were pathological indices in the descending aorta, inferior vena cava and ductus venosus, with biphasic pulsatile flow in the umbilical vein, while indices in the middle cerebral artery were normal. Coronary blood flow was demonstrated in both coronary arteries with the use of color-coded and pulsed wave Doppler sonography. The clinical course was marked by minimal growth and persistence of pathological venous indices. At 29 + 3 weeks' gestation the venous flow pattern in the umbilical vein was noted to be triphasic pulsatile. At this time there was cardiac dilatation with tricuspid and mitral insufficiency. The parents did not want active management and intrauterine fetal death was diagnosed at 30 + 4 weeks' gestation. This case illustrates the fact that prolonged intrauterine survival, despite highly pathological Doppler indices in the venous and arterial circulation, is possible, indicating the extreme adaptability of some fetuses with early onset intrauterine growth retardation.
Abstract: True knot of the umbilical cord is a rare occurrence, which is difficult to diagnose antenatally, even with the use of ultrasound. Constriction of a true knot of the umbilical cord may lead to obstruction of the fetal circulation and subsequent intrauterine death. We present a singleton pregnancy, in which the antenatal diagnosis of a true knot of the umbilical cord with entanglement of the cord around the fetal neck and body was made at 23 + 1 weeks' gestation. With the use of color-coded Doppler followed by pulsed wave Doppler spectral analysis, a stenotic effect on the umbilical venous blood flow, with normal arterial blood flow, was demonstrated for the first time. Marked acceleration of umbilical venous blood flow velocities from 15 cm/s pre-stenotically to 100 cm/s post-stenotically was demonstrated. This presented as an aliasing phenomenon and a mosaic pattern on color flow imaging in the variance mode. This phenomenon was only transient and could not be demonstrated again at follow-up examinations. A healthy newborn was delivered by Cesarean section at 33 + 1 weeks' gestation. The presence of a single knot was confirmed at delivery.
Abstract: Although etiology and pathogenesis of congenital dislocation of the hip (CDH) is of broad interest in orthopaedics, basic questions still remain obscure. Advances in high-resolution ultrasound technology now permit investigation of the fetal hip joint in vivo. Standard values of intrauterine hip development have been established by investigating 146 fetuses (141 pregnancies) in vivo by ultrasound. Standard values describe the development from 20th weeks of gestation until birth. Prenatal Alpha- values suggest influence of intrauterine posture and spatial fetal conditions on hip development. Alpha-angles of 59.7 (SD 8.9) are achieved at the end of pregnancy. These angles meet standards of Graf's calculations for the postnatal hip development. Standard values of intrauterine hip development are of basic interest for interpretation of hip joints in premature children.
Abstract: Studies in the fetal lamb have shown that atrial pacing beyond a rate of 300-320 beats/min may be associated with dramatic changes of venous blood velocity waveforms, an increase of venous pressure by up to 75%, hydrops, polyhydramnios and placental edema. The aim of our study was to determine the 'critical' heart rate frequency in the human fetus. In 11 fetuses (five with and six without hydrops) with supraventricular tachycardia, pulsed wave Doppler analysis of flow velocity waveforms of the inferior vena cava, the ductus venosus and the left hepatic vein were performed before and after drug treatment. In ten cases cardioversion was achieved by in utero antiarrhythmic drug therapy; in one case treated with digoxin and flecainide the supraventricular tachycardia was decreased to 160-190 beats/min with disappearance of hydrops. Before intrauterine treatment of supraventricular tachycardia, pulsatile reversal of blood flow in the inferior vena cava, ductus venosus and left hepatic vein was visible, with monophasic forward flow during systole and reversed flow during diastole in ten of 11 fetuses. One fetus with supraventricular tachycardia of 195 beats/min showed a normal biphasic forward flow pattern. During drug-induced sinus rhythm, a normal biphasic forward venous blood flow pattern was shown in all ten cases. In five cases pulsatile reversal was demonstrated during a drug-induced reduction of the heart rate from 280 to 210 beats/min and a normal biphasic forward flow velocity waveform appeared during supraventricular tachycardia below 210 beats/min.(ABSTRACT TRUNCATED AT 250 WORDS)
Abstract: Alterations of the ductus arteriosus, e.g. occlusion, constriction or aneurysm, can influence the fetal and neonatal circulation. A case of fetal right atrial and ventricular dilatation, severe tricuspid valve insufficiency and transient pulmonary valve regurgitation at 32 weeks of gestation is reported. Structural heart defects and extracardiac diseases (e.g. high output cardiac failure in arteriovenous shunts and anemia) were excluded by Doppler echocardiography and fetal blood sampling. An abnormally S-shaped kinking of the ductus arteriosus with increased systolic and diastolic flow velocities in the distal part was demonstrated. At 35 weeks' gestation, Cesarean section was performed, because of increased tricuspid valve insufficiency, and a healthy boy was born. After birth, right heart dilatation and tricuspid valve insufficiency decreased. The cardiac changes in relation to the anatomical abnormality of the ductus arteriosus are discussed.
Abstract: AIM: Study of the anatomy of the fetal hip joint in 115 pregnancies between 13. to 40.th weeks of gestation by ultrasound. METHOD: Sonoanatomy was studied by high resolution ultrasound (Acuson 128). For investigation of vascular supply of the fetal hip, colour-coded Doppler sonography was performed. In-vivo studies on vascular supply were correlated with histological sections of 34 fetal hip specimens, according to the conceptional age of 13-35 weeks. RESULTS: Vascular studies of the proximal end of the human femur showed a supply by the lateral and medial femoral circumflex arteries branched from the femoral artery or the deep femoral artery. After 22 weeks of gestation the acetabular artery supplied by the obturator artery was visible by means of Doppler sonography. At the end of pregnancy, large numbers of intraosseous blood vessels are demonstrable within the femoral head and neck. CONCLUSION: The basic arterial pattern of the hip joint is established at birth. Proximal end of the growing femur, acetabulum, os ilium and labrum acetabulare are clearly visible by ultrasound.
Abstract: Recent advances in ultrasound technology now permit direct access to foetal structures with visualisation of foetal hip development. Since early diagnosis and treatment of congenital hip dislocation significantly influence outcome of the disease, ultrasound screening of newborn infants proved to be the most effective method. In our study assessment of the foetal hip has been carried out to provide basic knowledge on foetal hip development from 14.-40. weeks of gestation. Technique of foetal hip ultrasound is presented. Diagnosis should include qualitative and quantitative descriptions of foetal hip structures. Alpha and Beta angles according to Graf's classification are frequently measurable from the 21st week of gestation, but tend to be more reliable towards the end of pregnancy.
Abstract: We report about a premature infant with a De Barsy-Moens-Dierckx-syndrome, which is a rare cutaneo-oculo-cerebral malformation-syndrome. It is defined by the combination of a progeroid aspect, cutis laxa, growth retardation, cornea clouding, mental retardation and athetoid movements. Furthermore, the reported case showed a remarkable thermolability and suffered from generalised seizures resistant to therapy. Despite extensive sonographic examinations the prepartal diagnosis seems to be very difficult.
Abstract: Recent advances in ultrasound technology, especially high-resolution sonography, now permit visualisation of the fetal hip development. Since early diagnosis and treatment of congenital hip dislocation significantly influence the outcome of the disease, ultrasound screening of the newborn infants showed to be the most effective method. In our study assessment of the fetal hip has been performed on the prenatal level in order to provide basic knowledge on fetal hip development from 14th to 40th weeks of gestation. From the 20th week of gestation bony structures are clearly visible and allow the assessment of acetabular configuration. Soft tissue and chondral acetabular components are recognizable from the 21st week. For pre- and postnatal comparative measures Graf's method and standard documentation is used.
Abstract: Out of 1101 fetuses with prenatally diagnosed malformations and/or growth retardation 166 (15.1%) revealed a ventriculomegaly. Out of these 18 fetuses (10.8%) demonstrated a chromosomal disorder. Within the group of 97 fetuses with isolated hydrocephalus 6 (6.2%) revealed a chromosomal abnormality. Two fetuses among 29 (6.9%) with hydrocephalus and spina bifida as the only additional sign showed pathologic karyotypes. Among fetuses with additional malformations, 10 out of 40 (25.0%) had a chromosomal disorder. Our data demonstrate that a prenatally diagnosed hydrocephalus should be regarded as an indication for a chromosomal analysis, with the highest amount of chromosomal disorders in fetuses with different additional malformations.
Abstract: A longitudinal study was performed in nine nonhydropic and nine hydropic fetuses with supraventricular tachycardia (SVT). First, because of a lack of reference methods in utero, the validity of spatial (length and area) and temporal parameters for semiquantitative grading of atrioventricular (AV) valve regurgitation by color Doppler flow mapping and M-Q mode imaging was evaluated by a longitudinal intraindividual study before and after drug-induced cardioversion to sinus rhythm and by correlation with the severity of hydrops and the time required for complete remission of hydrops. Second, with the demonstration of AV valve incompetence and changes in venous blood flow velocity wave forms, new data were collected concerning chronic SVT in the fetus. AV valve incompetence occurred in eight fetuses: during SVT only in three severely hydropic fetuses, during sinus rhythm in one nonhydropic fetus, and in seven hydropic fetuses including those previously mentioned, where AV incompetence outlasted tachycardia. The length and area of the regurgitant jet as imaged by color Doppler flow mapping and the temporal duration of regurgitation in relation to the systolic phase as measured by M-Q mode continuously diminished intraindividually but with great interindividual differences in the time span required for complete remission, which ranged from 5 to 42 days. Pulsed-wave Doppler studies of blood flow in the inferior vena cava and left hepatic vein demonstrated normal biphasic forward flow with a systolic and a diastolic surge during sinus rhythm in all fetuses and in two instances also during SVT of 190 and 195 beats/min, respectively. In all cases a pulsatile reversal of blood flow with systolic forward flow and diastolic reverse flow was observed during tachycardia greater than 220 beats/min. Thus the presence of functional AV valve incompetence as a result of annular enlargement seems to be a sign of SVT-induced "cardiomyopathy" during fetal life. AV valve incompetence during SVT was always associated with extremely severe hydrops and seemed to indicate the most severe degree of ventricular dysfunction, which could influence the selection of antiarrhythmic drugs. After termination of SVT, severe AV valve insufficiencies also occurred in other cases of hydrops, probably because of the markedly increased diastolic filling distending the already enlarged annular ring. The observed great interindividual differences in time required for disappearance of AV valve incompetence and hydrops could be explained by a different state of progression of tachycardia-induced "cardiomyopathy" at the time of drug-induced cardioversion.(ABSTRACT TRUNCATED AT 400 WORDS)
Abstract: Multiple pregnancies require intensive monitoring of the fetal condition, in particular during the last months of pregnancy. Recording fetal behaviour offers a possibility of investigating the neuromotor development, in twin pregnancies even behavioural patterns of fetuses of the same gestational age and "environment" may be compared. In 25 primarily uncomplicated twin pregnancies we simultaneously recorded antepartum FHR and FM patterns in twins younger than 36 completed gestational weeks over a period of at least one hour via a new device for simultaneous registration of FM and FHR in twin pregnancies. According to our longitudinal observations we have defined a special terminology for comparing the behaviour of twins considering gestational age, differences of FHR or FM patterns and the continuity of these patterns throughout gestation. To our opinion this will open a new field not only for clinical diagnostics in complicated twin pregnancies but also for developmental research of the possible impact on the further neurological development of multiple fetuses. Human behaviour in its early stage may be compared considering even "interfetal communication".
Abstract: Fetal echocardiography was performed using a high-frequency vaginal ultrasound probe in 114 singleton pregnancies between 11 and 16 weeks of gestation. The four-chamber view with both atria, atrioventricular valves and ventricles as well as the origin and double-crossing of aorta and pulmonary trunk could always be demonstrated from the 13th week onwards. In 12 of 13 cases, cardiac malformations were diagnosed in the first trimester. Only in one case was transabdominal echocardiography necessary at 20 weeks to make the diagnosis. In several cases, however, additional malformations were overlooked, in particular anomalies of the great arteries, such as coarctation of the aorta. Therefore, the accuracy of second-trimester transabdominal echocardiography is markedly higher. Because of the lower diagnostic accuracy, the high costs of equipment and the high training demanded of the examiner, first-trimester transvaginal echocardiography should be restricted to the high-risk fetus, i.e.: (1) Cases with other fetal anomalies very often associated with cardiac defects, such as nuchal edema and hygroma, non-immune hydrops, omphalocele, situs, inversus, or persisting arrythmia; (2) High-risk families with one or more first-degree relatives with cardiac defects are either inherited by Mendelian rules alone, or as part of a rare syndrome; and (3) In pregestational diabetes of the mother.Thus, many severe cardiac defects can be detected or excluded in the first trimester, reducing maternal anxiety. In these high-risk cases, second-trimester echocardiography using the transabdominal route should always be performed because of its distinctly higher diagnostic accuracy.
Abstract: Choroid plexus cysts were diagnosed in 25 out of 823 fetuses with prenatally diagnosed abnormalities (growth retardation/malformations). Among these, 5 revealed a chromosomal disorder (4 cases with trisomy 18 and one case with a translocation trisomy 21). Additional abnormalities, such as growth retardation, holoprosencephaly, hydrocephalus and club foot, were found in 6 out of the 20 fetuses with no chromosomal abnormality. All fetuses with a chromosomal disorder revealed further typical prenatally recognizable abnormalities. Our observation indicates that prenatally diagnosed choroid plexus cysts should be considered as an indication for prenatal chromosomal diagnosis, although the risk of there being an underlying chromosomal disorder is low in cases with no additional abnormalities.
Abstract: From 1981 to 1990, 60 fetuses with tachyarrhythmia (21-39 weeks of gestation) were treated in utero. Of these, 54 were cases of supraventricular tachycardia, and six of atrial flutter. Non-immune fetal hydrops was present in 21 cases with supraventricular tachycardia and in five cases with atrial flutter, a total of 26 cases.Transplacental treatment by maternally administered antiarrhythmic drugs (digoxin only or in combination with verapamil) produced good results in non-hydropic fetuses. In this group, all 34 fetuses survived. In fetuses with hydrops, 20 out of 26 survived. In 13 fetuses of the 26 with hydrops, direct fetal therapy was performed in addition to the transplacental therapy when the tachyarrhythmia was refractory to transplacental treatment. During the 9 years of this study, a variety of direct treatment regimes have been used consisting of intraperitoneal and/or umbilical intravenous administrations of different drugs. Since 1988, umbilical vein punctures have shown that the transplacental passage of digoxin (and amiodarone) is hampered in the presence of hydrops, and direct treatment may he necessary in these cases. Amiodarone seems to he the drug of choice for direct therapy. It is highly effective in supraventricular tachycardia and atrial flutter. The long elimination half-time of amiodarone reduces the number of umbilical cord punctures needed to maintain the therapeutic drug level in the fetus.
Abstract: Ultrasound M-mode examinations were performed at 78 pregnant women in the second half of pregnancy during 1 year period, because of fetal dysrhythmia. Distribution of the diagnoses of the fetuses: near 40% sinus rhythm, 5.13% organic heart diseases, 48.72% supraventricular arrhythmia, 5.13% atrioventricular block, 1.28% ventricular extrasystole. In 11.54% of the cases intrauterine treatment was necessary (supraventricular tachycardia) for prevention the congestive heart failure. The transplacental treatments were as follows: in 3 cases digitalis, in 3 cases digitalis + verapamil, in 3 cases digitalis + amiodaron. In two cases (refractory to the mentioned treatments) direct intrafunicular, intravascular digitalis + amiodaron treatment was reasonable. Being the correct diagnosis of dysrhythmias possible only with ultrasound M-mode examination, all of the recognised cases have to be sent to adequate ward, where a suitable equipment is available.
Abstract: In general the perinatal outcome of oligohydramnios is poor. The diverse etiology of the entity is difficult to pinpoint. Multiple antepartum amnioinfusions can be beneficial in selected cases not associated with malformations, abnormal karyotypes or premature rupture of the membranes. We treated 38 patients with 105 such instillations.
Abstract: Fourteen fetuses with atrioventricular canal malformations were examined by two-dimensional echocardiography, pulsed-wave Doppler echocardiography, and color Doppler flow mapping. Eleven fetuses had complete and three fetuses had partial atrioventricular canal malformations. Nonimmune hydrops fetalis was associated with six cases, and fetal arrhythmia was seen in three cases. With two-dimensional echocardiography, the atrioventricular canal malformations could be diagnosed accurately. The inclusion of color Doppler flow mapping, however, provided additional hemodynamic information that was important from the prognostic point of view. Incompetence of atrioventricular valves could be demonstrated in 10 of 14 cases by Doppler echocardiography. In nine cases, detailed Doppler echocardiographic evaluation of the regurgitation jet was possible. The proportion of systolic time during which atrioventricular valve insufficiency was demonstrated was related to the occurrence of nonimmune hydrops fetalis. When insufficiency of atrioventricular valves was associated with hydrops (four cases), a pansystolic insufficiency was always present. In cases without hydrops (five), regurgitation was confined to early systole. Thus a reliable method for semiquantitative evaluation of the degree of insufficiency seems to have been found. Moreover, an association appeared to exist between the occurrence of hydrops fetalis and the proportion of atrial area that was taken up by regurgitant jet area, as determined by planimetry in the four-chamber view. Prenatal diagnosis was confirmed by autopsy or neonatal cardiac evaluation. Only one neonate survived in our series. Two were stillborn, four died during the neonatal period, two died during infancy, and pregnancy was electively terminated prematurely in five cases. Eight fetuses were found to have a karyotypic abnormality.
Abstract: Cordocentesis under ultrasound guidance, or percutaneous umbilical blood sampling, was first reported in 1983 by Daffos et al. Since then the method has gained importance in prenatal diagnosis. In 1,011 cases at a women's clinic in Bonn, Federal Republic of Germany, 35% of the cordocentesis cases were done for blood group incompatibilities plus intravascular transfusion in most of the cases. In the remaining 65% the indications for cordocentesis were a rapid karyotype analysis, diagnosis of fetal infections and determination of fetal acid-base status in severe intrauterine growth retardation. Chorionic villus sampling (CVS) and amniocentesis were also performed to detect karyotype anomalies. Amniocentesis constituted 78.8% of the procedures and detected 50% of the karyotype abnormalities. Cordocentesis and CVS constituted 17.3% and 3.9%, respectively, of all the procedures and diagnosed 39% and 11%, respectively, of the abnormalities. Different forms of trisomy were the most common karyotype anomaly. Translocation was noted in 22 cases. Turner's, Klinefelter and triple X syndromes and triploidy were the next major forms.
Abstract: Four immunochemical methods for digoxin assay were used to analyse control samples, 33 amniotic fluid samples, 57 samples from digitalis-treated, non-pregnant women, 90 pregnancy serum samples, and 72 samples of fetal or neonatal serum with or without digoxin therapy. One hundred and five samples were also submitted to ultrafiltration before analysis. Three methods (RIA, TDX, AMERLITE) showed practically the same precision, while the precision of the DELFIA was markedly inferior. In the analysis of serum samples from digoxin-treated, non-pregnant women, RIA and TDX gave practically the same values, whereas AMERLITE and DELFIA gave significantly higher values. Pregnancy serum and fetal serum contain "digoxin-like immunoreactive factors", and the qualitative and quantitative effects of these interfering factors are different for each of the four methods. The greatest sensitivity to "digoxin-like immunoreactive factors" is shown by TDX and DELFIA, while the lowest interference by "digoxin-like immunoreactive factors" is found in the analysis of ultrafiltered samples, using the TDX method. The composition of the "digoxin-like immunoreactive factors" in pregnancy serum and in fetal serum is altered by digoxin therapy, and these changes have different effects on the various analytical methods. The concentration of "digoxin-like immunoreactive factors" in the serum of fetuses receiving digoxin is markedly lower than that of healthy fetuses. For the reliable monitoring of digoxin therapy in the maternal and fetal circulation, the blood samples must be submitted to ultrafiltration before analysis.
Abstract: The cause of the non-immune hydrops fetalis (NIHF) remains unsettled despite all efforts. From the immunological point of view of pregnancy as a successful course of an allograft, it would seem possible that the idiopathic NIHF can be caused by an immunologic disorder in the meaning of a host-versus-graft reaction. Of 324 cases of prenatally diagnosed NIHF, 49 (15.1%) could be classified after exclusion of all other causes as idiopathic and in 38 patients, as well as in 38 age- and parity-paired controls, a differentiation of HLA-antigens and a determination of lymphocytotoxic antibodies using the NIH Prolonged Incubations and Cold-Complement-Dependent Cytotoxicity Test (CoCoCy Test) were performed. In cases of idiopathic NIHF, the proportion of parents sharing 4 or 5 HLA antigens was increased significantly (p less than 0.05) compared with the control group. In women with idiopathic NIHF, the incidence of lymphocytotoxic antibodies was decreased, due to the test system used; between 28 and 68% in the NIHF group and 24-80% in the control group. The proportion of women without lymphocytotoxic antibodies was increased in the NIHF group by 72% to 52%, whereas in the control group, in none of the patients could a higher cytotoxicity with a lysing rate of more than 75% be detected. In 8 cases of idiopathic NIHF, where an increased paternal histocompatibility and a decreased incidence and percentage of lymphocytotoxic antibodies were determined, an immunotherapy was performed in order to induce maternal blocking antibodies.(ABSTRACT TRUNCATED AT 250 WORDS)
Abstract: The methodology of the two-dimensional fetal echocardiography is described by the basic of the accepted international nomenclature. By their opinion it is necessary that on the 18-20th weeks of gestation the high risk pregnants in aspect congenital heart disease examined by well-trained specialists. The indications of the echocardiography are listed, too.
Abstract: Fetal hydrops is associated with two distinct pathophysiologic situations. The isoimmune hydrops fetalis is a well understood disorder, and as the result of medical advances and prophylactic therapy its frequency is diminishing. The nonimmune hydrops fetalis is a poorly understood disease with a bad prognosis. The two disorders can be differentiated with the indirect Coombs test. In both cases the ultrasound examination plays an important role in the diagnosis, prognosis and management. Examination of the fetal blood sample gives recently a possibility to approach the disease. In NIHF the examination of fetal blood sample would give a relatively quick and effective diagnosis but its value for the treatment is limited. Although with the present technology it is impossible to diagnose all cases of NIHF, the early recognizing, the careful and step by step investigation, the active perinatologic management mostly can show the etiology and can help the perinatal team at the treatment of the disease.
Abstract: Color Doppler flow mapping of fetal heart was performed in 582 fetuses between 16 and 38 weeks of gestation. Congenital heart diseases were excluded in 522 fetuses correctly. In 59 fetuses structural and/or functional cardiac abnormalities were diagnosed. In one fetus small multiple ventricular septal defects were missed. The most important additional information obtained by color Doppler flow mapping was: (1) Diagnosis of insufficiencies of atrioventricular valves; (2) Demonstration of turbulent high velocity jet in stenosis of semilunar valve; (3) Reverse flow in ascending aorta in atresia of aortic valves and on ductus arteriosus and main pulmonary artery in atresia of pulmonary valves; (4) Reverse perfusion of ductus arteriosus and main pulmonary artery as well as an antegrade turbulent high velocity jet in severe pulmonary stenosis as part of tetralogy of Fallot; (5) Bidirectional interventricular shunting of blood in ventricular septal defect. Color Doppler flow mapping allows rapid screening for flow abnormalities of the fetal heart. Exact localisation of sample volume by pulsed wave Doppler in area of abnormal flow pattern is possible, thus significantly reducing the Doppler examination time. The accuracy of prenatal diagnosis of congenital heart diseases is improved by application of color Doppler flow mapping, in particular in presence of complex cardiac defects.
Abstract: In nine cases of fetal arrhythmias without cardiac anomalies or congestive heart failure a vaginal delivery was attempted. Due to these arrhythmias adequate fetal heart rate monitoring during labor was not possible. All cases were continuously monitored during labor with the transcutaneous measurement of fetal carbon dioxide tension (tcpCO2). Seven patients could be delivered spontaneously. In one of these cases the newborn was acidotic at birth (pH less than 7.20 in the umbilical artery) which was correctly identified (tcpCO2 greater than 60 mmHg). All newborns were vigorous (Apgar score after 1 minute greater than 7). In cases with uninterpretable fetal heart rate patterns tcpCO2 monitoring of the fetus during labor is an alternative method of fetal surveillance, which identifies fetal distress and can prevent unnecessary operative deliveries.
Abstract: Improving techniques in fetal echocardiography have important implications in the field of clinical genetics. 1) Fetal echocardiography in pregnancies with families with increased recurrence risks for congenital heart disease (CHD): In 473 pregnancies with increased recurrence risks for CHD second-trimester fetal echocardiography was performed. In 11 cases (2.3%) cardiac malformations were present that could be diagnosed in five cases prenatally (hypoplastic left heart, complete atrioventricular canal defect with hypoplastic left ventricle, preductal coarctation of aorta, tetralogy of Fallot, complete atrioventricular canal defect). In six cases the prenatal diagnosis could not be performed (total anomalous pulmonary venous connection [one case], secundum atrial septal defect [two cases], ventricular septal defect [three cases]). The recurrence risk in families with one previously affected child was 1.4% (5/364), and 17.6% (3/17) in families with two previously affected children. In two out of 44 cases with one affected parent a CHD could be diagnosed, in both cases one previous child was already affected. 2) Congenital heart defect as a common symptom in malformation syndromes: CHD is common as a symptom in malformation syndromes. The demonstration of a fetal CHD can lead to diagnosis of a complex malformation syndrome and it is integral in prenatal diagnosis in cases with increased recurrence risks for a complex malformation syndrome. The sonographic diagnosis of a CHD may signal associated chromosomal disorders. Between January 1986 and December 1988 in 433 cases with prenatally diagnosed congenital malformation and/or severe fetal growth retardation a prenatal chromosome analysis was performed. Within this group 77 fetuses demonstrated a CHD and 28 (36%) out of these revealed a chromosomal disorder. The genetic basis of CHD, the most common complex syndromes with CHD, and the principles of genetic counseling in families with CHD are summarized.
Abstract: Colour-coded M-mode Doppler echocardiography is a simultaneous registration of the conventional M-mode echocardiogram and of the pulsed wave colour-coded Doppler echocardiogram with simultaneous analysis of several sample volumes along the ultrasound cursor with a high timely resolution, guided by the two-dimensional imaging. Within 9 months, 36 foetuses with arrhythmias were prospectively examined (24 foetuses with atrial premature beats, 9 foetuses with supraventricular tachycardia, and 3 foetuses with complete heart block). The classification of arrhythmia by the colour-coded M-mode Doppler echocardiography was always possible at first examination. The most important advantage of this method is the simultaneous registration of the information of conventional M-mode and Doppler echocardiography. Therefore, the intervals between atrial and ventricular contractions can also be analysed even when the angle of insonation to the foetal heart is unfavourable, since contractions cannot only be identified by wall movements but also by the flow velocities. Furthermore, the duration of regurgitation of atrioventricular valves can be exactly measured by colour-coded M-mode Doppler echocardiography. In foetal supraventricular tachycardia, it appears that severity of congestive heart failure is correlated with the duration of atrioventricular valve regurgitation up to a holosystolic insufficiency. Thus, it seems possible, that the duration of insufficiency of atrioventricular valves is a good parameter for evaluation of cardiac function and for modifying antiarrhythmic treatment in cases of supraventricular tachycardia.
Abstract: Chromosome investigations were carried out in 588 fetuses with prenatally diagnosed growth retardation and/or congenital malformations. Out of these cases 116 (19.7%) revealed a chromosome disorder. Among the prenatally diagnosed malformations heart defects were detected in 102 fetuses (17.3%) and were therefore one of the most common abnormalities. Within this group of prenatally diagnosed heart defects 41 fetuses (40.2%) had a chromosome disorder, with trisomy 18 and 21 as the most common syndromes. The results of our study demonstrate that heart defects which can be recognized prenatally by ultrasound are caused in about 40% of the cases by a chromosome aberration and that they are therefore always an indication for fetal karyotyping.
Abstract: Obstetrical management in case of foetal third-degree AV block has been to date mainly via primary abdominal section, the indication being partly the foetal condition and partly also unsatisfactory childbirth monitoring. The article describes a childbirth associated with AV block, monitoring being effected by continuous measurement of the transcutaneous partial carbon dioxide pressure (tcpCO2) and via laser spectroscopy. Prenatal diagnostics and indications for vaginal delivery are also described. Updated knowledge on the pathogenesis of foetal AV block is presented.
Abstract: Until recently, prenatal diagnosis of fetal cardiac malformations was restricted to the second and third trimesters. With the advent of high-frequency transvaginal probes, earlier detection of such malformations is possible. We present a case of nonimmune hydrops fetalis with complete atrioventricular canal defect, insufficiency of atrioventricular valves, and complete heart block at 11 weeks' gestation diagnosed by transvaginal two-dimensional and Doppler echocardiography.
Abstract: IVF procedures have been increasingly used in male subfertility for both therapeutic and diagnostic purposes. As we assume a positive influence of the tubal milieu on the early embryonal development, any therapy should aim at intratubal embryo transfer. In this respect, only invasive techniques such as laparoscopy or laparotomy have been available hitherto (Asch et al., 1986; Balmaceda et al., 1988; Diedrich et al., 1989). Transvaginal intra-tubal embryo stage transfer (TV-TEST) was performed in 15 patients. After stimulation with clomiphene/HMG, HMG or GnRHA/HMG, patients with a follicle size of 18 mm were given 10000 IU HCG. Thirty six hours later, the transvaginal oocyte retrieval was performed without anaesthesia. Altogether, 109 oocytes were recovered. A fertilization rate of 30.3% yielded 33 embryos. Forty-eight hours after oocyte retrieval, the TV-TEST was performed without anaesthesia, in the course of which a maximum of three embryos in the 2- to 8-cell stage were transferred into one tube. Six of these patients are now pregnant.
Abstract: In a fetus with ventricular extrasystoles a congenital aneurysm of the left ventricle was diagnosed prenatally. At 32 weeks of gestation, echocardiography showed a large apical left ventricular aneurysm with a thin, hypokinetic wall. Congestive heart failure did not occur. Prenatal and postnatal examinations did not detect the aetiology of the aneurysm, but excluded the majority of possible causes. The 2-year-old child is now asymptomatic and normally developed. Neither medication nor surgical treatment have been necessary, except for antithrombotic prophylaxis with low-dose aspirin.
Abstract: Prenatal diagnosis of tetralogy of Fallot by two-dimensional echocardiography, which is based on demonstration of a ventricular septal defect and a large overriding aorta, is difficult. In the majority of cases the main pulmonary artery is small. In utero, there is no pathologically increased degree of the physiological right-ventricular hypertrophy. Colour Doppler flow mapping of reverse flow from the descending aorta via the ductus arteriosus into the main pulmonary artery is easily demonstrated, and provides an indirect sign of severe right-ventricular outlet obstruction. The technique also differentiates between pulmonary stenosis and atresia; the stenotic jet, even small, is identified by demonstration of high velocities and turbulences in the main pulmonary artery.
Abstract: A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascending aorta, (b) reverse flow of blood from the ductus arteriosus into the severely hypoplastic ascending aorta in the late systole, (c) pansystolic mitral valve regurgitation, and (d) absent flow across the foramen ovale as a result of premature closure of the foramen ovale.
Abstract: One hundred and fifty fetuses between 16 and 38 weeks of gestation were studied by fetal echocardiography using colour-coded two-dimensional Doppler echocardiography. Two-dimensional, M-mode, and Doppler spectral analyses were also performed. In 14 fetuses, structural and/or functional abnormalities were detected. Abnormalities were correctly ruled out in all the other fetuses. The advantages of two-dimensional Doppler echocardiography are (1) rapid screening for flow abnormalities in the fetal heart, and thus shortening of the Doppler examination time; (2) rapid diagnosis of valvular regurgitation, valvular stenosis, and abnormal shunting of blood across the interatrial and interventricular septa; and (3) facilitation of the diagnosis of complex congenital heart defects which in certain cases is possible only by using two-dimensional Doppler echocardiography.
Abstract: A case of premature beats and paroxysmal supraventricular tachycardia without resulting congestive heart failure was diagnosed in a fetus of 38 weeks of gestation by echocardiography. Transplacental antiarrhythmic therapy was initiated, but a complete cardioversion was not achieved. Due to these arrhythmias adequate fetal heart rate monitoring during labor was not possible. By using continuous transcutaneous measurement of fetal carbon dioxide tension the fetus was delivered spontaneously, having been adequately monitored in spite of the effect on the fetal heart rate of the arrhythmias.
Abstract: The fetuses of 352 patients at between 16 and 38 weeks of gestation were studied by using two-dimensional Doppler echocardiography (2-DDE). In 32 fetuses, structural and/or functional abnormalities were detected. The advantages of 2-DDE are, in particular, rapid screening for flow abnormalities and, thus, shortening of the Doppler examination time. Further benefits include a rapid diagnosis of valvular regurgitation, valvular stenosis, and abnormal shunting of blood across the cardiac septa. The diagnosis of complex heart defects is facilitated by and, in certain cases, only possible at all using 2-DDE.
Abstract: By the application of all methods of fetal echocardiography the prenatal diagnosis and a prognostically correct assessment was reached in a severe case of Ebstein's anomaly of tricuspid valve associated with pulmonary atresia, severe tricuspid regurgitation, and a hypoplastic main pulmonary artery. It is demonstrated that only the application of two-dimensional color-coded Doppler-echocardiography followed by a spectral-Doppler-echocardiography can result in an accurate evaluation of hemodynamical alterations and thus in the prognostic assessment in the reported case.
Abstract: The endometrium of a series of 190 in vitro fertilization patients was investigated by transvaginal ultrasound. The endometrial pattern was related to the likelihood of implantation. No such relationship was found for the thickness of the endometrium. There was not a strong correlation between the endometrium and hormonal values. However, three endometrial patterns were detected after hormonal stimulation. The predominant pattern consisted of an outer hyperechogenic layer and an inner hypoechogenic layer. This pattern correlated in a positive fashion with subsequent implantation. It is concluded that the texture of the endometrium at the time of ovum pickup has a prognostic value for the likelihood of implantation to occur.
Abstract: It is a preliminary report on 2 pregnancies after transvaginal intra fallopian tubal embryo stage transfer (TV-TEST) in male factor infertility. Method and indications are discussed.
Abstract: Chromosome analyses were carried out in a series of 775 fetuses with morphological abnormalities diagnosed by ultrasound. Among these cases, 57 demonstrated non-immune hydrops fetalis with hygroma colli (group 1) and a further 116 non-immune hydrops fetalis without hygroma colli (group 2). Different chromosome abnormalities were found in 54.5% of cases of group 1 where chromosome analyses could be performed, and in 27.6% of cases of group 2. The most common aberrations were monosomy X and trisomy 21.
Abstract: Complete heart block was diagnosed prenatally in 21 fetuses. Associated structural cardiac defects were present in 18 fetuses, in particular complete atrioventricular canal with atrial isomerism (5 cases), and 'corrected' transposition of the great arteries (4 cases). Maternal systemic lupus erythematosus was proved in only one case. In 11 fetuses, intra-uterine congestive heart failure with the signs of non-immune hydrops fetalis occurred. In all 11 fetuses, the hydrops was associated with a cardiac defect, in particular complete atrioventricular canal with atrial isomerism in 5 cases. A review of the literature confirms that only the association of complete heart block and cardiac malformation can cause intra-uterine congestive heart failure, whereas in the case of fetal complete heart block without cardiac malformation or with prenatally hemodynamically insignificant cardiac malformation, congestive heart failure is rare. Only 30% of newborns with complete heart block have associated cardiac malformations. In our series, however, 86% of the fetuses with complete heart block had cardiac malformations. The most important reason for this percentage discrepancy is that almost all fetuses with associated severe cardiac defects, in particular atrioventricular canal defects, develop heart failure which frequently results in prenatal death. Thus, fetal deaths are not included in pediatric statistics. Nevertheless, fetuses with isolated complete heart block generally do not develop heart failure and in almost all of the cases are born alive.
Abstract: We describe a rare case of non-immune hydrops fetalis caused by mediastinal teratoma. The sonographic appearance was that of a mixed cystic and solid mass in the antero-superior mediastinum. The teratoma, on post mortem, extended cranially to the upper part of the thyroid, exerting pressure and causing deviation of the trachea, oesophagus, and aortic arch. The pathogenesis of non-immune hydrops fetalis suggests obstruction of venous return caused by this tumour.
Abstract: The cause of the nonimmune hydrops fetalis remains unsettled in spite of greatest efforts. Under an immunologic point of view of pregnancy as a successful course of an allograft it seems possible, that the idiopathic NIHF can be caused by an immunologic disorder in the meaning of a host-versus-graft-reaction. From 300 cases with prenatal diagnosed NIHF 37 (12.4%) could be classified after exclusion of all other causes as idiopathic and in 25 patients, as well as in 25 age- and parity-paired controls a differentiation of HLA-antigens and a determination of lymphocytotoxic antibodies using the NIH-, Prolonged incubation- and Cold-Complement Dependent-Cytotoxicity-Test (CoCoCy-Test) were performed. In cases with idiopathic NIHF the percentage of parents sharing 4 or 5 HLA-antigens was increased with 4/25 to 2/25 compared to the control group. In women with idiopathic NIHF the incidence of lymphocytotoxic antibodies was decreased, in dependence of the test-system used between 28 and 68% in the NIHF group and 24 and 80% in the control group. The percentage of women without lymphocytotoxic antibodies was increased in the NIHF group with 72% to 52%, in opposite to the control group in none of the patients a higher cytotoxicity with a lysing rate of more than 75% could be detected. In 4 cases with idiopathic NIHF, an increased paternal histocompatibility and a decreased incidence and percentage of lymphocytotoxic antibodies an immunotherapy was performed, in order to induce maternal blocking antibodies.(ABSTRACT TRUNCATED AT 250 WORDS)
Abstract: The recurrent non-immunological hydrops fetalis is classified as a separate entity. It is usual to differentiate between the chylous and the idiopathic form. The case presented indicates that the recurrent non-immunological hydrops fetalis should not be seen as an idiopathic but as a chylous form. Only in enterally fed children the initially amber coloured pleural effusion becomes opaque and the triglycerides are then elevated. This points to a fault in the development of lymph vessels.
Abstract: In 402 cases with prenatally diagnosed nonimmune hydrops fetalis, cardiovascular diseases were present in 18%, chromosomal disorders in 11%, and hematologic disorders of the fetus in 10%. In the last 3 years, fetal blood sampling has become a very important part of the differential diagnosis of nonimmune hydrops (chromosomal, hematologic and metabolic disorders, intrauterine infection). Also, transabdominal placental biopsy has been used for rapid karyotyping. A detailed fetal echocardiogram is absolutely necessary in all cases of nonimmune hydrops, in particular spectral and color Doppler flow mapping. Thus, congenital heart diseases can be accurately diagnosed. Further, in other causes of hydrops regurgitation of atrioventricular valves may be present in advanced stage. New important methods of intrauterine therapy are in particular: intravascular blood substitution in anemia, and the intravascular application of antiarrhythmic drugs in tachyarrhythmia. The overall survival rate was 19.4% (78 of 402); 4.0% (6 of 149) before 24 weeks of gestation, and 28.5% (72 of 253) after this age of gestation. The majority of survivors were in the tachyarrhythmia, hematologic disorder, isolated ascites and hydro-/chylothorax groups (53 of 78 survivors, 68%). In the other groups, the survival rate was generally low.
Abstract: In cases of fetal tachyarrhythmia with congestive heart failure accompanied by signs of non-immune hydrops fetalis, the transplacental treatment of the fetus with antiarrhythmic agents by administration of drugs to the mother is only rarely successful. In the two cases reported, the cardioversion of a supraventricular tachycardia to a sinus rhythm or a constant 2:1 AV conduction block to a 1:1 AV conduction with atrial flutter could only be achieved after additional antiarrhythmic treatment directly administered to the fetus using ultrasound guidance. Drugs used include: beta-methyldigoxin, verapamil, propafenon, and they were administered according to the dosing amounts for intravascular injections. This was carried out 12 times in case 1 by the intraperitoneal route into the fetal ascites and twice in case 2. This led in both cases to varying durations of a sustained sinus rhythm after 5-15 minutes. This technically relatively simple procedure affords the option of rapidly achieving high concentrations, even when antiarrhythmic agents are administered which do not adequately cross the placenta. This direct treatment is indicated in cases of tachyarrhythmia with advanced signs of non-immune hydrops fetalis as a supplement to the high-dose transplacental therapy using antiarrhythmic agents.
Abstract: In cases of severe oligohydramnios, sonographic diagnosis is hampered by poor visibility and by increased fetal flexion. Therefore, 74 artificial instillations of amniotic fluid were performed in 50 pregnancies by sonographic guidance. Fetal diseases included Potter's syndrome, obstructive uropathy, cystic kidneys (20 cases); Meckel's syndrome, C. de Lange syndrome, cytomegaly fetopathy (1 case each); VATER association (2 cases); triploidy (5 cases); severe intrauterine growth retardation (8 cases); and premature rupture of membranes (12 cases). By improved sonographic visibility and the observation of fetal behaviour (drinking, filling of stomach and bladder, voiding of bladder after artificial instillation of amniotic fluid), the fetal anatomy could be studied more accurately, malformations could be identified or excluded, and bladder function could be examined. Thus, differentiation between fetuses without functioning kidneys and those with severe intrauterine growth retardation becomes possible. Further, re-aspiration on the day following instillation permitted determination of the karyotype. Finally, the artificial instillation of amniotic fluid is a hazardous intervention (rupture of membranes, labour) and should be reserved only for a small number of selected cases with diagnostically unclear oligohydramnios. For these cases, it seems to be the method of choice permitting a variety of diagnostic information to be obtained.
Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sonographic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.
Abstract: 105 fetuses between 16 and 38 weeks of gestation were studied by fetal echocardiography using color-coded two-dimensional Doppler-echocardiography (2-DDE). Two-dimensional, M-mode, and spectral-Doppler analyses were also performed. In 11 fetuses, structural and/or functional abnormalities were detected. Abnormalities were correctly excluded in all other fetuses. The advantages of the 2-DDE are, in particular: rapid screening for flow abnormalities in the fetal heart and, thus, shortening of the Doppler-examination time; furthermore, a rapid diagnosis of valvular regurgitation, valvular stenosis and abnormal shunting of blood across the interatrial and interventricular septa; the diagnosis of complex congenital heart defects is facilitated by and, in certain case, only possible using 2-DDE.
Abstract: Fetal supraventricular tachyarrhythmias are very rarely associated with congenital heart diseases. Usually a circus movement (= reentry), often associated with a preexcitation, and occasionally an atrial ectopic focus are suggested as the pathophysiologic mechanisms of supraventricular tachyarrhythmias. In the reported case - atrial flutter, complete common atrioventricular canal with fetal trisomy 18 - the atrial flutter was probably provoked by the dilatation of the atria due to the regurgitation of both atrioventricular valves. This case indicates the need for a detailed echocardiographic examination (using two-dimensional, M-mode, and Doppler-echocardiography) in each case of fetal tachyarrhythmias in order to exclude associated cardiac defects, possibly in association with a chromosomal anomaly.
Abstract: Non-immunologic hydrops fetalis-a review of 31 cases: 31 Patients with non-immunologic hydrops fetalis (NIHF) seen between 1984 and 1987 are described. 13 infants survived. The infants with major congenital malformations and connatal infections died. In 8 of the patients who died a cause for NIHF could not be identified. 10 of the survivors presented chylous ascites and/or chylothorax without major congenital anomalies. 2 infants had fetal tachyarrhythmia and 1 patient showed severe anemia due to fetomaternal hemorrhage.
Abstract: In cases of non-immune hydrops fetalis caused by tachyarrhythmias, the transplacental passage of antiarrhythmic drugs may be hampered. When this is proven by fetal blood sampling in cases of tachyarrhythmia refractory to transplacental treatment, additional administration of antiarrhythmic drugs into the fetus is necessary and seems to improve the results. Although injections of antiarrhythmic agents in fetal ascites are also highly effective, intravascular administration by sonographic guidance is to be preferred. Then, simultaneous measurements of fetal and maternal drug levels are possible for the evaluation of pharmacokinetics and for monitoring the antiarrhythmic therapy.
Abstract: In a pregnant woman without increased genetic risk, the presence of distrophic dysplasia of the fetus was diagnosed sonographically at 31 weeks' gestation and definitively distinguished from other skeletal dysplasias. In all prenatal diagnosis of diastrophic dysplasia reported so far, this autosomal recessive congenital condition had occurred in the family's previous children and this made the diagnoses of fetal diastrophic dysplasia easier. The reported case was diagnosed due to evidence of an extreme shortening of all long bones of the extremities associated with other skeletal deformities which, taken as a whole, are typical of this syndrome: micrognathia, cervical kyphosis, persistent extension limitation in elbow and knee joints, club feet, ulnar diviation of hands, shortened phalanges, and, in particular, abduction of thumbs ('hitchhiker thumbs') and big toes.
Abstract: In 11 of 21 fetuses with prenatally diagnosed complete heart block, congestive heart failure with signs of non-immune hydrops fetalis was seen. In all 11 fetuses, cardiac malformations were present: complete atrioventricular canal with levocardia, situs inversus viscerum, and polysplenia: 5 cases; tricuspid atresia with situs inversus viscerum, endocardial fibroelastosis, common atrium with aortic valve atresia, hypoplastic left heart, atrial septal defect of secundum type: one case each. All these cardiac malformations can also cause intrauterine heart failure without heart block except hypoplastic left heart and atrial septal defect. A review of the literature confirms, that only the association between complete heart block and cardiac malformation--in particular AV-canal and endocardial fibroelastosis--can cause an intrauterine congestive heart failure, whereas in the case of fetal complete heart block without cardiac malformation or with prenatally hemodynamically insignificant cardiac malformations--in particular "corrected" transposition of great arteries--a congestive heart failure is rare.
Abstract: Between December 1986 and November 1987, 588 transvaginal sonographically guided oocyte retrievals using a vaginal transducer were performed for in-vitro fertilization. All follicles were accessible. No complication occurred except for one case of pelviperitonitis in a patient with preoperatively diagnosed sactosalpinx. Because this technique is safe, non-invasive and can be performed without general anaesthesia, eggs were also retrieved from patients despite poor hormonal values and endogenous LH surge. In all, clinical pregnancies were diagnosed in 85 patients. Pregnancy rates per embryo transfer, oocyte retrieval and stimulated cycle, respectively, were 19.0, 14.5 and 12.0%. The advantages of the transvaginal technique compared with laparoscopically guided and with other sonographically guided techniques of oocyte retrieval are obvious, e.g. no general anaesthesia, in general all follicles accessible, very low complication rates, little discomfort to patient, less time and fewer staff. Therefore, this technique seems to be the method of choice. Laparoscopically guided oocyte retrieval is only indicated when a laparoscopic screening of pelvic organs or a gamete intra-Fallopian transfer are to be performed simultaneously.
Abstract: Between December 1986 and November 1987, 588 transvaginal sonographically-guided oocyte retrievals, using a vaginal transducer, were performed for in vitro fertilization at the University of Bonn. All follicles were accessible. No complication occurred except one case of pelviperitonitis in a patient with preoperatively diagnosed sactosalpinx. Because this technique is safe, non-invasive, and performable without general anaesthesia, we also retrieved eggs in patients despite poor hormonal values and endogenous LH-surge. In all, clinical pregnancies were diagnosed in 85 patients. Pregnancy rates per embryo transfer, oocyte retrieval and stimulated cycle, respectively were 19.0%, 14.5% and 12.0%. The advantages of the transvaginal technique, using a vaginal transducer compared with the laparoscopically-guided as well as with other sonographically-guided techniques of oocyte retrieval, are obvious (possibly without general anaesthesia, in general all follicles are accessible, very low complication rates, low discomfort to patient, and less amount of time and staff). Therefore, this technique seems to be the method of first choice. A laparoscopically-guided oocyte retrieval is only indicated, when a laparoscopic screening of pelvic organs or a gamete intrafallopian transfer are to be performed simultaneously.
Abstract: We report on 45 fetuses with prenatally diagnosed bilateral cystic hygromata colli by ultrasound. Two of the 45 cases involved a twin pregnancy with only one fetus showing hygromata colli. In 2 cases there was only isolated hygromata colli. The other 43 cases showed the signs of non-immune hydrops fetalis. The cytogenetic findings were: 9 fetuses with Turner syndrome, 1 fetus with Turner mosaicism, 1 fetus with trisomy 18, 6 fetuses with trisomy 21, 12 fetuses with normal karyotype, and 16 fetuses with a failed chromosome culture. In fetuses with Turner syndrome and normal karyotype the sonographic findings were similar: massive bilateral hygromata colli, substantial fluid accumulations in skin and body cavities, oligohydramnios and intra-uterine growth retardation. In the cases with trisomy 21, the relative size of the hygromata colli was smaller. Intra-uterine growth retardation and oligohydramnios were not observed. The sole survivor of our group (elective pregnancy interruption: 30 cases; intra-uterine death: 14 cases) (karyotype: 46,XY) presented sonographically with massive ascites, a moderate cystic hygroma, and appropriate fetal development, and a normal amniotic fluid quantity. These findings are analysed in order to provide recommendations for prenatal diagnosis, prenatal management and genetic counselling of the couples concerned.
Abstract: A case of prenatally diagnosed non-immune hydrops fetalis, that was later shown to be caused by listeriosis, is presented, and the clinical course, as well as the appropriate diagnostic and therapeutic procedures are described. We conclude, that listeriosis should be excluded, whenever a non-immune hydrops fetalis is associated with septicemia, influenza-like illness and fever of unknown origin.
Abstract: A subnormal maternal serum alpha-fetoprotein level associated with elevated alpha-fetoprotein level in amniotic fluid was found in a case of trisomy 21 combined with esophageal atresia in a fetus at 36 + 5 weeks of gestation. The significance of this observation is discussed in view of the possible biologic mechanisms resulting in maternal serum alpha-fetoprotein reduction in cases of fetal autosomal trisomies. The most likely hypotheses seem to be a reduced fetal alpha-fetoprotein production and/or an alteration of the placental regulation of the alpha-fetoprotein transfer from fetal to maternal blood via the placenta.
Abstract: Fetal trisomies 21 and 18 have been found to be associated with low maternal serum alpha-fetoprotein values in the second trimester of pregnancy. The concanavalin A reactivity of amniotic fluid alpha-fetoprotein of 35 fetuses with trisomy 21 and 7 fetuses with trisomy 18 between the 16th and 24th week's gestation has a normal pattern of distribution. In 7 cases of autosomal trisomies in association with other malformations (neural tube defect, omphalocele, non-immune hydrops fetalis), the percentage of the fraction without affinity for concanavalin A was significantly lowered. These results do not support the hypothesis of a qualitatively altered fetal production of alpha-fetoprotein as a cause of lowered maternal serum alpha-fetoprotein levels in cases of fetal autosomal trisomy.
Abstract: Fetal cystic hygromas are a manifestation of early lymphatic obstruction. They are mostly associated with nonimmune hydrops fetalis. They often occur in a number of chromosome abnormalities (Turner syndrome and Down syndrome). We report on a prenatally detected case with nuchal cystic hygroma and nonimmune hydrops fetalis without chromosome aberration and without further major malformations. Postnatally hygroma and hydrops regressed.
Abstract: Persistent supraventricular extrasystoles are antepartally, intrapartally and postpartally the most frequent form of arrhythmias, and do not cause fetal congestive heart failure (hydrops fetalis). The premature beats often disappear spontaneously prenatally, but in most cases within the first two weeks of life. The extremely rare observation of the occurrence of a supraventricular tachycardia in the 37th week of gestation in a fetus with persistent supraventricular extrasystoles from the 20th week of gestation onward and with a postnatally diagnosed Wolff-Parkinson-White syndrome is described. Because of the importance of this complication of supraventricular extrasystoles (a supraventricular tachycardia of the fetus can cause a cardiac failure with hydrops fetalis and eventually intrauterine death), it is important that all fetuses with supraventricular extrasystoles be closely monitored by frequent observation of the fetal heart rate using ultrasound (M-mode-echocardiography), cardiotocography and auscultation. Postpartally a cardiologic examination of these newborn infants is necessary, particularly in order to exclude the presence of a preexcitation.
Abstract: Short rib-polydactyly (SRP) syndrome Type I was diagnosed accurately in an at-risk fetus at 16 weeks of gestation by real-time sonography. The most important findings were a narrow thorax, significant shortening of the long bones, particularly the tibiae, and--by directed search--the polydactyly.
Abstract: Paroxysmal supraventricular tachycardia causing an intrauterine congestive heart failure was diagnosed in a fetus at 33 week's gestation. After maternal digitalization the tachycardias and the signs of heart failure disappears. Postpartum a Wolff-Parkinson-White syndrome was recognised by electrocardiography. The paroxysmal supraventricular tachycardias of the newborn was terminated abruptly by intravenous application of propafenon. Recurrences were prevented by the oral administration of propafenon.
