1/281. prenatal diagnosis of smith-lemli-opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus.A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings suggested Smith Lemli Opitz syndrome (SLO), which was confirmed by a markedly increased amniotic fluid level of 7-dehydrocholesterol. We review the differential diagnosis of apparent sex reversal in a fetus and low maternal serum oestriol level. To further examine the specificity of low maternal oestriol level as a marker for SLO a follow-up study of 12141 pregnancies screened for down syndrome using three biochemical markers: alpha-fetoprotein, beta-human chorionic gonadotrophin and oestriol was performed. 26 pregnancies had an oestriol level that was 0.25 MoM or less. SLO was not diagnosed clinically in any of the liveborn children ascertained through a low maternal oestriol level. Nine of the pregnancies ended in spontaneous miscarriage. Although the frequency of SLO in pregnancies with low maternal oestriol levels or sex-reversed fetuses is unknown, the diagnosis of SLO should, nevertheless, be considered in both clinical settings.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
2/281. Antenatal diagnosis of Bart's hydrops fetalis [correction of homozygous alpha thalassemia]. A case report.OBJECTIVE: Diagnosis of the Bart's hydrops fetalis [corrected]. METHOD: Bart's hydrops fetalis [corrected] was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin. RESULT: As there is no known effective treatment, termination of pregnancy was proposed to the patient. CONCLUSIONS: Bart's hydrops fetallis [corrected] is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would permit a reduction of invasive examinations in couples at risk.- - - - - - - - - - ranking = 0.58665115714524keywords = gestation, pregnancy (Clic here for more details about this article) |
3/281. Small for gestational age infant in association with maternal prothrombin gene variant (nt 20210A).Most of disproportionate infants born small for gestational age (SGA) have an history of placental dysfunction with no explained cause. We report a case of an unexplained SGA infant with placental infarctions and thrombosis. Maternal thrombophilic disorder tests revealed that the patient was heterozygous for the A20210 prothrombin gene variant a newly identified thrombotic risk factor. It may be suggest that prothrombin gene variant, as factor v Leiden, could be a genetic risk factor for placental insufficiency.- - - - - - - - - - ranking = 1.6832557857262keywords = gestation (Clic here for more details about this article) |
4/281. prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease.We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. color Doppler imaging demonstrated no blood flow signals from renal vessels. fetal blood sampling confirmed a 47,XX, 9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.- - - - - - - - - - ranking = 0.67330231429048keywords = gestation (Clic here for more details about this article) |
5/281. Multiple pregnancies in women after renal transplantation. Case report that rises a management dilemma.OBJECTIVES: To report the pregnancy outcome in women with multiple pregnancies after renal transplantation. MATERIALS AND methods: We report two cases of multiple pregnancies (triplets and twins) in renal allograft recipients and evaluate the pregnancy courses and maternal and fetal outcome of these patients. RESULTS: After fetal reduction from triplet to twin pregnancy the first patient delivered healthy twin babies at 36 weeks gestation. Six months after delivery the woman is well with no signs of renal function impairment. Although the second patient did not meet the optimal criteria for consideration of pregnancy in renal transplant recipients, she delivered normal twin babies at 33 weeks' gestation. Maternal complications during pregnancy included preeclampsia, mild deterioration of renal function tests, and secondary complications due to drug therapy that was resolved after delivery. No graft rejection episodes were noted in either case during pregnancy. CONCLUSIONS: Multifetal gestation in renal allograft recipients represents a high-risk pregnancy that should be managed at a tertiary care institution. The overall outcome in properly consulted patients can be considered favorable. Based on our limited experience with two cases, we suggest reduction of triplets to a twin pregnancy which is consistent with the current literature data.- - - - - - - - - - ranking = 3.0099534714357keywords = gestation, pregnancy (Clic here for more details about this article) |
6/281. May-Hegglin anomaly in a pregnancy complicated by intrauterine growth restriction and ambiguous genitalia.OBJECTIVE: thrombocytopenia as a hematologic disorder complicates up to 4% of all pregnancies. May-Hegglin anomaly is a rare cause of low platelets in pregnancy. methods: A case of May-Hegglin anomaly complicating pregnancy and intrauterine growth restriction in a fetus with ambiguous genitalia is described. RESULTS: The antepartum and intrapartum diagnosis and management of a patient diagnosed with May-Hegglin anomaly is discussed. The involvement and consultation of a perinatologist, neonatologist, internist, and anesthesiologist is reviewed, with emphasis on the mode of delivery. CONCLUSION: The potential maternal and fetal complications associated with May-Hegglin anomaly warrant early pregnancy diagnosis and access to a tertiary care facility.- - - - - - - - - - ranking = 1.75keywords = pregnancy (Clic here for more details about this article) |
7/281. prenatal diagnosis of trisomy 20 mosaicism by maternal serum screening for down syndrome.We report two cases of prenatally diagnosed trisomy 20 mosaicism associated with positive down syndrome screening at 16 weeks' gestation. Both infants exhibited normal growth and mental development.These cases suggest that the multiple-marker screening test may play an important role in prenatal detection and diagnosis of chromosomal anomalies in addition to down syndrome.- - - - - - - - - - ranking = 0.33665115714524keywords = gestation (Clic here for more details about this article) |
8/281. Hypocomplementemia correlates with intrauterine growth retardation in systemic lupus erythematosus.PROBLEM: The aim of this study was to elucidate fetomaternal risks in systemic lupus erythematosus (SLE)-complicated pregnancy. METHOD OF STUDY: Pregnancy course, complications, and fetal outcome in 82 pregnancies of 55 patients with SLE were investigated. RESULTS: These 82 pregnancies resulted in 14 fetal losses and 66 live births. Without clinical manifestation of SLE-flare, 4 of 8 patients who had low serum complement activity during the pregnancies delivered small-for-date neonates. The rate of the intrauterine growth retardation was significantly higher than that observed in pregnancies with normal complement activity. The frequency of premature deliveries (60%) in patients who received more than 15 mg/day of prednisolone was significantly high when compared with pregnancies maintained by 0-15 mg/day (13.1%). CONCLUSIONS: These data demonstrate the preconceptional and perinatal management necessary in SLE and suggest that the pregnancy with hypocomplementemia, the disease activity, and/or a relatively high maintenance dose of corticosteroid should be carefully managed and monitored.- - - - - - - - - - ranking = 0.5keywords = pregnancy (Clic here for more details about this article) |
9/281. 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 = 1.5099534714357keywords = gestation, pregnancy (Clic here for more details about this article) |
10/281. 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 = 0.58665115714524keywords = gestation, pregnancy (Clic here for more details about this article) |
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