[Sirenomelia--a rare cause of an oligoanhydramnion in the second trimester--a case report]. / Sirenomelie--eine seltene Ursache für ein Oligo-hydramnion im zweiten Trimester--Ein Fallbericht.

Sirenomelia is a rare, but complex and lethal malformation. It is caused by a primary defect of the caudal axial skeleton and damage to the primary streak, which appears due to a vascular steal phenomenon. Sirenomelia appears sporadic with an incidence of 1-64,000 births. A risk for sirenomelia can be also found in patients with poorly controlled diabetes mellitus and in monocygotic twins. Leading ultrasound findings are fusioned lower extremities, bilateral renal agenesis, single umbilical artery and a distinct oligohydramnios. 3D ultrasound and color Doppler sonography can additionally be used for diagnostic, as well as amnioninfusion. There are 3 forms of sirenomelia, depending on missing or presence of the feet it is distinguished as sympus apus, monopus or dipus. We are presenting a case of sirenomelia with sympus dipus, which was transferred for further diagnostic of severe oligohydramnios in 21 weeks of gestation by the gynecologist.

Venous Doppler in the evaluation of fetal hydrops.

Objective. To examine venous blood flow velocity in different types of fetal hydrops and its value in the prediction of outcome of pregnancies. Methods. Venous Doppler sonography was performed in 100 hydropic fetuses from 15 to 37 weeks of gestation. Blood velocity was recorded in the right hepatic vein (HV), the ductus venosus (DV) and in the intra-abdominal part of the umbilical vein (UV). Blood velocity indices were calculated and pulsations in the umbilical vein noted and grouped into a single, double or triple flow pattern. Blood velocity was related to cause of hydrops. Results. Mortality was noted in 51 cases of which 19 were by termination of pregnancy. Mortality in the 30 with normal venous blood velocity was 35%, but 58% in cases of abnormal Doppler. Abnormal HV and DV blood velocities were recorded in 39 and 34 cases, respectively and were strongly related to mortality (P < .04 and P < .003, resp.). UV pulsations were noted in 49 fetuses and were significantly related to mortality (P < .04). Mortality and abnormal venous velocities were most frequent in the low-output hydrops group (79% and 75%, resp.). Conclusions. Abnormal venous blood velocity is related to mortality in pregnancies complicated by fetal hydrops. Venous Doppler sonography should be a part of the routine work-up of pregnancies complicated by fetal hydrops.

Abnormal umbilical-portal-hepatic venous system in two siblings: a sign for congenital cholangiodysplasia.

We report on two siblings who presented prenatally with a ductus venosus (DV) that was abnormally located between the middle hepatic vein (mHV) and the proximal inferior vena cava (IVC), and with hepatomegaly. The first case presented with polyhydramnios at 33 weeks and therapeutic amniocentesis resulted in premature delivery soon after admission. The neonate died 19 days later and autopsy revealed congenital cholangiodysplasia. The second fetus presented for routine screening at 19 weeks of gestation and was found to have similar abnormalities of the venous system, suggesting the same origin of disease. Termination of pregnancy was performed and autopsy revealed congenital cholangiodysplasia. Our observations suggest that an abnormal umbilical-portal-hepatic venous system may be associated with a congenital malformation of the liver.

Venous Doppler velocimetry in the surveillance of severely compromised fetuses.

OBJECTIVE: To investigate whether venous Doppler velocimetric signs of cardiac decompensation might predict fetal demise in severely compromised fetuses. MATERIAL AND METHODS: This was a prospective study involving 154 growth-restricted fetuses, 37 of which were found to have reversed flow in the umbilical artery (BFC III). Doppler velocimetry of the right hepatic vein and ductus venosus were investigated serially and the presence of umbilical venous pulsations also registered. Only the final examination prior to birth or fetal demise was accepted for analysis and related to obstetric outcome defined as gestational age at birth, birth weight and perinatal mortality. In cases of BFC III the venous velocimetry of 15 nonsurviving fetuses was compared to that of the 22 survivors. RESULTS: There was a significant correlation between venous blood velocity and placental vascular resistance. In the right hepatic vein there was a significant decrease in peak systolic and end-systolic velocities and an increase of maximum velocity during atrial contraction and pulsatility (P < 0.05). A decrease of all velocities and increase of pulsatility were noted in the ductus venosus (P < 0.05). A reversed flow in the ductus venosus was found in 9/37 fetuses and double umbilical venous pulsations in 16/37 fetuses. However, the hepatic vein seemed to be a better predictor of impending mortality than the ductus venosus. Changes in diastolic venous blood velocity and a double pulsation in the umbilical vein were closely related to perinatal mortality, although these parameters did not provide a useful threshold to optimize the timing of delivery. CONCLUSION: Diastolic venous velocimetry changes significantly in severely compromised fetuses. These changes might be of great clinical value in deciding on the timing of delivery to minimize damage to the fetus and newborn.

The methylenetetrahydrofolate reductase 677 C-->T polymorphism and preeclampsia in two populations.

OBJECTIVE: The C677T polymorphism of the 5,10 methylenetetrahydrofolate reductase (MTHFR) gene is associated with decreased MTHFR activity and elevated plasma homocysteine levels with the result of an increased risk for vascular disease. Because thrombosis of the maternal spiral arteries can be one of the causative events in the disease, it has been suggested that the C677T polymorphism may also play a role in the pathogenesis of preeclampsia. Our case-control study investigated the prevalence of the 677T allele in two ethnically different populations and the potential association of the 677T allele with preeclampsia. Special attention was paid to the potential contribution of the fetal genotype to disease risk. METHODS: Blood samples were collected from 81 mothers and 61 newborns after preeclampsia and 99 mothers and 61 newborns with normal pregnancies. Genomic DNA was amplified by polymerase chain reaction with locus-specific primers, and presence of the polymorphism was determined by enzymatic digestion with HinfI and visualization on polyacrylamide gels. RESULTS: Genotypes carrying the MTHFR 677T allele were significantly more frequent in German-Croatians than in Indonesians in both patients and controls (P =.0033 in controls). In contrast, the prevalence of genotypes with the 677T allele was not increased among patients with preeclampsia compared with controls in both ethnic groups (P >.5 in all groups). In Germans, the frequency of 677T homozygotes among controls even exceeded that observed in preeclamptic patients (677T/T genotype frequency 0.20 in controls and 0.07 in patients). We did not find an increased prevalence of paternally inherited 677T alleles in preeclamptic fetuses relative to controls or other signs of maternal-fetal transmission distortion. CONCLUSION: In our study, the MTHFR C677T polymorphism was not associated with an increased risk for preeclampsia on the level of the maternal or fetal genotype. However, significant differences of the frequency of genotypes carrying the 677T allele between Middle-Europeans and Indonesians were identified.

Two types of umbilical venous pulsations and outcome of high-risk pregnancy.

Normally, blood flows evenly in the umbilical vein, without fluctuation. A pulsating pattern has been reported during fetal heart failure and asphyxia. Recently we have noticed two types of pulsating pattern; its relationship to adverse outcome is unclear. In a prospective multicenter study, recording of umbilical cord venous blood flow was conducted in high-risk pregnancies admitted for routine artery Doppler. In cases of pulsating flow or signs of vascular resistance in the umbilical artery, the examination was extended to the intra-abdominal part of the umbilical vein. Venous pulsation, single or double, were noted and correlated to perinatal outcome. Venous flow pulsatility was noted in 83 fetuses during 2 years, 26 had a double pulsating pattern, which was closely related to increased vascular resistance in the umbilical artery and perinatal mortality. A single pulsating venous pattern in one location had a good prognosis. In conclusion a double pulsating venous pattern, especially if extending to the cord, is an ominous finding in high-risk pregnancy associated with poor perinatal outcome. A single pulsating pattern predicted a much better outcome and might be an indication for delivery in the high-risk case.

Diagnosis of a fetal mesoblastic nephroma by 3D-ultrasound.

We report a case of a fetal renal tumor detected prenatally on 3D-ultrasound. As the lesion was well encapsulated the initial sonographic diagnosis was that of a nephroblastoma. Volume calculation by the 3D technique gave a reliable estimation of the tumor size. Contrary to all published case reports concerning antenatally diagnosed mesoblastic nephromas, there was no polyhydramnios. Elective delivery was performed by Cesarean section at 38+ weeks gestation. The neonate underwent left nephrectomy on the second day of life. The subsequent course was uneventful without recurrence of the tumor.

Prenatal diagnosis of abnormalities of the fetal venous system.

OBJECTIVE: To present our experience in the prenatal diagnosis of anomalies of fetal veins using high-resolution color Doppler ultrasound. DESIGN: An observational study of 16 fetuses with abnormalities of the umbilical, portal, hepatic and caval venous system being diagnosed at the Division of Prenatal Diagnosis and Therapy (Bonn, Germany) over the past 5 years. The abnormality of the venous system, the underlying embryologic disorder and the outcome of the pregnancy are presented and compared with the literature. RESULTS: In group A, eight fetuses had an abnormal course of the umbilical vein with a patent (n = 3) or absent (n = 5) ductus venosus. No portal veins and absent or abnormal hepatic veins were visualized by color Doppler sonography. Six fetuses (75%) did not have an associated malformation and have survived. Two pregnancies with fetal hydrops due to a small heart and to Turner's syndrome were terminated or ended in fetal demise. In group B, seven of eight fetuses with an abnormal caval system had a situs ambiguus or an atrial isomerism. A cardiac defect was detected in six cases (86%). These six pregnancies ended in four terminations of pregnancy and two infant deaths due to the severity of the congenital cardiac defect. One child with a normal heart and a child with an isolated abnormal course of the lower inferior vena cava are developing well. CONCLUSIONS: In a targeted fetal scan the course of the umbilical vein, ductus venosus, the portal and hepatic veins and inferior vena cava should be carefully examined using color Doppler. Any suspicious finding should be followed by a detailed assessment of the specificity of this abnormality taking into consideration the embryologic development of the fetal venous system together with the associated malformations.

Agenesis of the ductus venosus and its correlation to hydrops fetalis.

Absence of the ductus venosus is a rare vascular anomaly. We report a late onset of a hydrops fetalis seen in a fetus at 34 completed weeks of gestation. A persistence of the cranial parts of the left and right umbilical veins and of the paired cranial vitelline veins with an absent ductus venosus led to a bilateral hydrothorax, ascites and skin-edema. Postnatally the hydrops resolved within 7 days most probably due to the change from the fetal to the adult circulation. The abnormal venous system was confirmed by angiography. Agenesis of the ductus venosus can manifest in two different morphologic patterns: The umbilical vein drains exclusively into the left branch of the intrahepatic portal vein or the umbilical vein drains into the inferior vena cava or directly into the right atrium by-passing the liver completely. In both patterns, the preferential direction of the flow towards the foramen ovale is not present. While the first pattern leads to hyperperfusion of the liver parenchyma, the latter would result in reduced perfusion and oxygenation. Our findings suggest that agenesis of ductus venosus might induce hydrops fetalis. We conclude, that in every case of hydrops fetalis the venous system should be evaluated by ultrasonography prenatally and/or immediately postnatally.

Ductus venosus velocimetry in high-risk pregnancies.

OBJECTIVE: Umbilical venous (UV) blood velocity pulsations have been considered as a late sign of fetal hypoxemia in high-risk pregnancies. Ductus venosus (DV) functions as a pressure filter as it conducts umbilical blood into the inferior vena cava of the fetus. The aim of this paper was to evaluate whether DV Doppler velocimetry might give earlier indication of fetal hypoxemia than does UV blood velocity. DESIGN: Recording of DV blood velocity in complicated pregnancies referred for umbilical artery (UA) velocimetry as one aspect of fetal surveillance. METHOD: DV and UV blood velocities were recorded serially by Doppler ultrasound in 87 high-risk pregnancies and the results of the last examination before delivery were correlated to perinatal outcome. RESULTS: Abnormal DV blood velocity waveforms recorded in 26 pregnancies were not correlated to perinatal outcome, except for low Apgar score at one minute of life. Abnormal UV blood velocity pulsations in the cord were recorded in 11 fetuses, of which only 6 had abnormal DV velocimetry. UV pulsations were related to adverse perinatal outcome and all these fetuses had abnormal UA velocimetry. CONCLUSION: Abnormal DV blood velocity is more frequently recorded in high-risk pregnancies than UV pulsations, but appears to be a poor indicator of adverse perinatal outcome.

Uterine artery color Doppler assisted velocimetry and perinatal outcome.

BACKGROUND: Previously, we have found uterine artery blood velocimetry performed with Doppler ultrasound without vessel visualization to be a poor predictor of perinatal outcome. The aim of this study was to ascertain whether the combination of color Doppler imaging with the method would improve its predictive value. METHODS: In a cross-sectional study of 110 uncomplicated pregnancies, uterine artery blood velocity was recorded bilaterally from 18 to 42 weeks of gestation to obtain reference values for pulsatility index (PI). Using color Doppler imaging, the main uterine artery was located as it crosses the iliac vessels and blood velocity was then recorded with pulsed Doppler ultrasound. The uterine and umbilical blood velocity waveforms were also obtained in 421 complicated pregnancies, and the results related to placental site and perinatal outcome. RESULTS: In uncomplicated pregnancies, the uterine artery PI was unrelated to gestational age using 1.20 as the upper cut-off limit for the mean PI of both vessels (mean+2 s.d.). Corresponding values for unilateral placental localization were 1.00 at the placental side and 1.40 at the non-placental side. Blood velocities obtained using the color Doppler combination were similar to previously presented results. In the complicated pregnancies, significant correlation was found between abnormal perinatal outcome and abnormality of the uterine artery blood velocity waveform, either increased PI (n = 44) or a notch in early diastole (n = 92). The predictive value of an early diastolic notch was superior to an increased PI in predicting abnormal outcome. The mean PI for both uterine arteries was a better predictor of outcome than blood velocity on the placental side. The blood velocity waveforms on the non-placental side were the poorest predictors of outcome. CONCLUSION: The addition of color Doppler imaging to pulsed wave Doppler ultrasound recording of uterine artery blood velocity improves the predictive value of blood velocity waveforms with regard to the perinatal outcome.

Prenatal diagnosis of diffuse mesangial glomerulosclerosis by ultrasonography: a longitudinal study of a case in an affected family.

The 4th child of an Arabian consanguineous family with 2 previous infant deaths due to diffuse mesangial glomerulosclerosis (at the ages of 1 and 44 days) and 1 healthy 3-year old child was followed up by ultrasonography from the 9th until the 35th week of gestation. Ultrasound showed enlarged hyperechogenic kidneys from the 14th week onwards, and the amniotic fluid level was increased to the upper normal limit. An amniocentesis at 14+ weeks of gestation showed a normal male karyotype and normal alpha-fetoprotein levels in amniotic fluid and maternal serum. Albumin and alpha 1-microglobulin levels in the amniotic fluid were within the normal range and not useful for diagnostic purposes. The child was born at the 36th week of gestation and died of renal failure 21 days later. A postmortem renal biopsy specimen revealed diffuse mesangial glomerulosclerosis.

[Detection of premature rupture of fetal membranes by determining insulin-like-growth-factor-binding protein-1]. / Nachweis eines Blasensprungs durch die Bestimmung des Insulin-like growth-factor-Bindungsprotein1.

In a clinical trial we examined the suitability of commercially available membrane immune assay for providing evidence of amniotic fluid. 150 amniotic fluid samples won either by amniotomy or amniocentesis were examined in 10 runs; 50 women without any signs of ruptured membranes served as a control group. Evidence of insulin-like growth-factor binding protein with a sensitivity of 97% and a specificity of 100% demonstrated that this test appears to give reliable proof of amniotic fluid. However, a specificity of 100% has to be critically investigated.

Perinatal case report of unexpected thalassemia Hb Bart.

Homozygous alpha-thalassaemia Hb Bart is a very rare illness in North America and Western Europe, but is a common cause of NIHF especially in South East Asia. It causes severe hydrops fetalis with lethal outcome and maternal complications as preterm labour, pre-eclampsia and retained placenta. A case report of an immigrant from Laos with preterm labour and fetal ascites, but without signs of pre-eclampsia is demonstrated. Fetal heart rate (FHR) trace and biophysical profile were pathological, while umbilical Doppler flow was normal due to hypoxaemia, but with hypervolumina and a high cardiac output. An amniocentesis and puncture of the ascites were performed, but FBS was not successful. Before receiving the results a caesarean section had to be done for deterioration of the FHR trace. A 1,370-g female infant was born who died of cardiovascular failure due to an alpha-thalassaemia Hb Bart and respiratory distress 5 days post partum. The parents had both an alpha-zero-thalassaemia. alpha-Thalassaemia is still a very unknown illness in Germany, but with the increasing numbers of immigrants from South East Asia it should be considered at the differential diagnosis of hydrops fetalis. A prenatal diagnosis should be offered to parents with alpha-zero-thalassaemia.

[Detection of rupture of fetal membranes using a commercially available fibronectin test kit]. / Zum Nachweis des Blasensprungs mit Hilfe eines kommerziell erhältlichen Fibronectin-Nachweistests.

In a clinical examination an attempt was made to confirm the aptitude of a commercially available immunoassay to detect amniotic fluid. Pure amniotic fluid gained by amniocentesis, not mixed with other secretions, was used. On examination using three different batches the sensitivity of this test amounted to 35/55 in all, or 64%. We came to the conclusion that the present test was not sufficiently reliable to prove or disprove the discharge of amniotic fluid. An explanation is needed especially regarding the role played by the forces which occur during contractions and the presence of cervical and vaginal secretions when fetal fibronectin is found to be present. The evidence of fetal fibronectin could possibly become more important as a predictor of imminent labour than as being proof of the admixture of amniotic fluid in cervical and vaginal secretions.