1/77. Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia.We report the first case of maternal uniparental disomy for chromosome 6 (UPD6mat) ascertained through congenital adrenal hyperplasia (CAH), which arose because of reduction to homozygosity of an autosomal recessive mutation. This case suggests that UPD6mat is associated with intrauterine growth retardation (IUGR). A case of paternal UPD (involving only the short arm of chromosome 6) ascertained as CAH has previously been reported, but was not stated to have IUGR. Our patient was born with IUGR followed by extraordinarily good catch-up growth. She had a history of a marked lag in motor development. She presented at 2.65 y of age with pubarche of 3 mo duration, clitoral enlargement, and an advanced bone age. Simple virilizing CAH was diagnosed by elevations of plasma 17-hydroxyprogesterone and testosterone. mutation analysis showed that the CAH was due to homozygosity for the 1172N exon 4 mutation. When parental dna was examined, the mother was found to be heterozygous for the uncommon exon 4 mutation, while the father had no detectable mutations. dna microsatellite analysis was subsequently performed on the patient and parents using polymorphic markers spanning the entire chromosome 6. Seven markers were informative for inheritance of a single maternal allele and absence of paternal alleles in the proband. Analysis of microsatellite markers from other chromosomes confirmed biparental inheritance at these loci. This combination of findings is diagnostic of UPD6mat. The only other reported case of UPD6mat was discovered serendipitously when genotyped for renal transplantation; this patient had a history of IUGR. Since both cases of UPD6mat had IUGR, the phenotype appears to include IUGR as well as the potential to unmask an autosomal recessive trait.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
2/77. Recurrent fetal thyrotoxicosis in a woman with Graves' disease: case report.The thyroid stimulating immunoglobulins are generally believed to be the cause of hyperthyroidism in Graves' disease. Placental transfer of these antibodies from a mother with autoimmune thyroid disease can result in fetal thyroid disorders. We report the case of a 31-year-old woman who had a history of Graves' disease. She received thyroxine therapy for post thyroidectomy hypothyroidism. Two years after the thyroidectomy, she became pregnant. Unfortunately, intrauterine fetal death occurred in midgestation. One year later, she became pregnant again. In the 26th week of gestation, fetal thyrotoxicosis was diagnosed using clinical pictures, including fetal tachycardia and cardiomegaly, and a hormonal evaluation of a periumbilical blood sampling (T4: 18 micrograms/dl, T3: 65.3 ng/dl, TSH: < 0.03 microU/ml) was performed. Antimicrosomal antibodies were not detectable in either the maternal or fetal blood. In this case, high levels of TBII were detected during pregnancy and crossed the placenta to result in a thyrotoxic fetus in the second pregnancy. We recommend that both the regular monitoring of the thyrotropin receptor antibodies of pregnant women with a history of autoimmune thyroid disease, and routine measurements of the fetal heart rate and intrauterine growth during gestation be mandatory for the early detection of fetal thyroid disorders. cordocentesis for measuring fetal thyroid function is helpful in reaching a definite diagnosis and for guiding therapy.- - - - - - - - - - ranking = 1473.473813545keywords = umbilical (Clic here for more details about this article) |
3/77. Brachmann-de lange syndrome: a cause of early symmetric fetal growth delay.Brachmann-de lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
4/77. Fetal schistocytic hemolytic anemia and umbilical vein varix.A rare case of schistocytic hemolytic anemia presenting in a fetus secondary to a varix of the intra-abdominal umbilical vein is reported. A patient was referred to our hospital at 32 weeks of gestation because of an abnormal hypoechoic finding in the fetal liver. Prenatal ultrasound showed turbulent flow through a 12-mm diameter dilatation of the fetal intra-abdominal umbilical vein consistent with a varix. cardiomegaly also was noted. At birth, the 1098-g, growth-retarded, male neonate was in severe congestive heart failure secondary to anemia as the initial hemoglobin was 5 g/dL. Additional evaluation found the anemia to be secondary to schistocytic hemolysis. After the neonate received a transfusion of packed erythrocytes and supportive care, the anemia quickly resolved, and he was discharged to home doing well after a 6-week stay in the neonatal intensive care unit. Prompt recognition of the varix prenatally and thorough evaluation of the newborn postnatally led to appropriate diagnosis and treatment.- - - - - - - - - - ranking = 8840.8428812702keywords = umbilical (Clic here for more details about this article) |
5/77. Intrauterine fetal death due to Farber disease: case report.We report a case of Farber disease in a fetus who died in utero at a gestational age of 29 weeks. Macroscopic examination showed moderate postmortem changes in a microcephalic female fetus (46,XX) with mild internal hydrops, two vessels in the umbilical cord, and a moderately enlarged, relatively well-preserved spleen. Microscopic examination showed foamy cells in the spleen. Electron microscopic examination revealed the presence of Farber bodies within these foamy cells. Enzyme studies of the fetus were not possible because all tissues were formalin fixed. lipids were extracted from formalin-fixed tissues and increased levels of ceramide and the presence of hydroxyceramide in tissue of the spleen, liver, and lung were found. Glucosylceramide was not increased excluding saposin-precursor-deficiency. Because of these findings, both parents were tested for acid ceramidase activity in their leukocytes. They both had markedly reduced enzyme activity consistent with heterozygosity for Farber disease. To the best of our knowledge, this is the first published case of Farber disease in Dutch nonconsanguineous parents.- - - - - - - - - - ranking = 1473.473813545keywords = umbilical (Clic here for more details about this article) |
6/77. Expectant management of severe preterm preeclampsia: is intrauterine growth restriction an indication for immediate delivery?OBJECTIVE: Expectant management of severe preterm preeclampsia is gaining widespread acceptance in clinical practice. The objective of our study was 2-fold-to determine the frequency of fetal deterioration with expectant management of severe preterm preeclampsia and to evaluate whether the presence of intrauterine growth restriction on admission is associated with a shorter admission-to-delivery interval or more deliveries resulting from nonreassuring fetal status in comparison with pregnancies with preeclampsia but without intrauterine growth restriction. STUDY DESIGN: This was an observational study of women with singleton pregnancies at <34 completed weeks' gestation who were admitted to the hospital with the diagnosis of severe preeclampsia and managed expectantly. Fetal status on admission, admission-to-delivery interval, indication for delivery, and neonatal outcome were examined. RESULTS: Forty-seven women were studied during a 3-year period (1996-1999). gestational age at admission was 29.8 /- 2.6 weeks. The mean admission-to-delivery interval for the entire group was 6.0 /- 5.1 days; in 42.5% delivery was for fetal indications. In comparison with the absence of intrauterine growth restriction, the presence of intrauterine growth restriction at admission resulted in a significantly shorter admission-to-delivery interval (3.1 /- 2.1 vs 6.6 /- 6.1 days; P <.05). Most fetuses with intrauterine growth restriction (85.7%) were delivered before 1 week. Although 57% of fetuses with intrauterine growth restriction were delivered for fetal indications, versus 39% of fetuses without intrauterine growth restriction, these rates were not found to be significantly different. Neonatal outcomes, as reflected by Apgar scores, number of admissions to and duration of stay in the neonatal intensive care unit, and neonatal mortality rates, were similar. CONCLUSION: Pregnancies complicated by severe preterm preeclampsia and the presence of intrauterine growth restriction at admission may not benefit from expectant management beyond the 48 hours needed for betamethasone to act. Furthermore, all patients may benefit from close fetal monitoring before delivery because of the high rate of intervention for deteriorating fetal status.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
7/77. prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum.We report a rare facial cleft (type 2 according to the Tessier classification) as the first presenting echographic sign of the oculo-auriculo-vertebral spectrum (OAVS) (goldenhar syndrome). Associated malformations included a left lateral cleft with macrostomia, left ear hypoplasia, left preauricular tag, single umbilical artery, hyposegmentation of the left lung and imperforatio ani.- - - - - - - - - - ranking = 162850.91718354keywords = single umbilical artery, single umbilical, umbilical artery, umbilical, artery, single (Clic here for more details about this article) |
8/77. Longitudinal observation of deterioration of Doppler parameters, computerized cardiotocogram and clinical course in a fetus with growth restriction.We report on a fetus with intrauterine growth restriction detected at 27 weeks' gestation, who was longitudinally followed up until delivery by cesarean section 33 days later (31 5 weeks) due to severe decelerations in CTG. Longitudinal Doppler assessment of the umbilical artery (UA), the middle cerebral artery (MCA) and the main branch of the right pulmonary artery (RPA), the ductus venosus (DV) and the left coronary artery was compared to clinical course and computerized CTG. At first presentation (day--33) increased resistance in both the UA and uterine arteries with bilateral notches was found. Absent enddiastolic flow (AED) in the UA was found at day--19 and reverse flow (RED) at day--11. The MCA showed a decreased pulsatility first at day--19 and again at day--11 together with RED in the UA. The RPA initially (day--33) showed increased PI which returned to normal values at day--19 but increased again at day--1, when the DV showed RED and the coronary arteries became visible. The DV was normal until day--11, then its PI began to increase together with occurence of RED in the UA, but reverse flow in the DV occurred only on the eve (day--1) of severe decelerations in CTG. Short-term variability in computerized CTG was stable at 6 to 7 ms, except for an intermediate drop to 4 ms at day--10. Maternal hypertension was found at day--19 and mild preeclampsia developed at day--12. A reduction of fetal movements was noticed at day--5. This report shows that at 29 weeks gestation despite detection of AED resp. RED in the UA a prolongation of pregnancy for 19 resp. 11 days is possible. In addition to abnormal CTG, late signs of fetal deterioration are reverse flow in the DV and visibility of the coronary arteries. The role of increased resistance in the main branches of the pulmonary arteries should be examined in the future.- - - - - - - - - - ranking = 23776.693787809keywords = umbilical artery, umbilical, artery (Clic here for more details about this article) |
9/77. Normalisation of a severely abnormal ductus venosus Doppler flow velocity waveform in a growth-retarded fetus with absent end-diastolic flow in the umbilical artery and congenital anomalies.Doppler recordings of fetal venous blood flow seem to be superior to arterial velocimetry and CTG concerning the prediction of fetal outcome and optimal time of delivery in pregnancies with fetal growth retardation and AREDV. An improvement of arterial Doppler flow velocities has been described. We report the reappearance of a normal end-diastolic flow velocity in a ductus venosus temporarily showing reversed end-diastolic flow in a growth-retarded fetus with congenital anomalies. This normalization was accompanied by an improvement of the CTG, a loss of umbilical vein pulsations, a reappearance of umbilical diastolic flow and a progressive return of cerebral and venous blood flow into the 'normal' range. Improvement of fetal condition may be the explanation for our observation.- - - - - - - - - - ranking = 97966.36072174keywords = umbilical artery, umbilical, artery (Clic here for more details about this article) |
10/77. Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects.Meckel Gruber syndrome (MGS), an autosomal recessive disorder characterised by posterior encephalocoele, multicystic kidneys and post-axial polydactyly should be recognised by obstetricians and paediatricians to counsel parents regarding the 25% recurrence risk. We report a consanguineous family with MGS affecting three infants.- - - - - - - - - - ranking = 4keywords = single (Clic here for more details about this article) |
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