1/273. 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 = 1keywords = ring (Clic here for more details about this article) |
2/273. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism.Leukocyte adhesion deficiency II has been described in only 2 patients; herein we report extensive investigation of another patient. The physical stigmata were detected during prenatal ultrasonographic investigation. Sialyl-Lewis X (sLex) was absent from the surface of polymorphonuclear neutrophils, and cell binding to E- and p-selectin was severely impaired, causing an immunodeficiency. The elevation of peripheral neutrophil counts occurred within several days after birth. A severe hypofucosylation of glycoconjugates bearing fucose in different glycosidic links was present in all cell types investigated, demonstrating that leukocyte adhesion deficiency II is not only a disorder of leukocytes but a generalized inherited metabolic disease affecting the metabolism of fucose.- - - - - - - - - - ranking = 1keywords = ring (Clic here for more details about this article) |
3/273. Acute oligohydramnios and deteriorating fetal biophysical profile associated with severe preeclampsia.Acute changes in fetal biophysical profile (BPP) status usually include rapid cessation of all nonessential acute biophysical activities, yet not necessarily an acute decrease in the amniotic fluid volume, or oligohydramnios. A 36-year-old para 3 with early third-trimester severe preeclampsia, mild placental abruption, and fetal growth restriction, with a reassuring BPP of 8/8, was managed expectantly with intravenous magnesium sulfate, hydralazine, and intramuscular corticosteroids. Within 20 h of admission a marked change in the BPP was noted, with a score of 0/8. amniotic fluid index (AFI), which on admission had been 20.1, progressively became 0, despite a stable normovolemic maternal status. At immediate cesarean, a mildly acidotic and hypoxic fetus was delivered which subsequently did well. This case supports the concept that acute oligohydramnios may develop rapidly in the presence of acute fetal hypoxemia.- - - - - - - - - - ranking = 0.5keywords = ring (Clic here for more details about this article) |
4/273. 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 = 1keywords = ring (Clic here for more details about this article) |
5/273. 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 = ring (Clic here for more details about this article) |
6/273. 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 = 376.56342531254keywords = chromosome (Clic here for more details about this article) |
7/273. 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 = 2keywords = ring (Clic here for more details about this article) |
8/273. Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.We report on a maternal uniparental disomy of chromosome 22 in a patient with severe intra-uterine growth retardation. karyotyping of a placental tissue revealed non-mosaic trisomy 22, whereas lymphocyte chromosomes from the newborn were normal 46,XY. Microsatellite analysis using dna extracted from white blood cells showed maternal uniparental heterodisomy for chromosome 22. Thus, the conceptus started as maternal trisomy due to meiotic non-disjunction, and trisomy rescue occurred subsequently through loss of the paternal homologue resulting in maternal uniparental disomy. Normal phenotypes in previous reports have suggested that maternal UPD 22 has no impact on the phenotype. Thus, growth retardation in this patient was probably caused by dysfunction of the trisomic placenta.- - - - - - - - - - ranking = 141.2112844922keywords = chromosome (Clic here for more details about this article) |
9/273. association of hypercytokinemia in the development of severe preeclampsia in a case of hemophagocytic syndrome.Hemophagocytic syndrome (HPS) is a syndrome presenting with signs of persistent remittent fever, hepatosplenomegaly, pancytopenia, hepatic dysfunction, and disseminated intravascular coagulation (DIC) due to hypercytokinemia caused by activated T lymphocytes and macrophages. The mortality in adults is high and a small number of complicated cases during pregnancy have been reported. We report one HPS case that developed a remittent fever, leukocytopenia, and thrombocytopenia in the 2st week of pregnancy, and abnormal blood coagulation, hepatic dysfunction, and hypercytokinemia were found. Antibiotics and immunoglobulin were given but failed to improve clinical and laboratory findings. At the 24th week, the patient was diagnosed with DIC, and antithrombin (AT) concentrate was given. With the increase in plasma levels of AT, improvements were seen in both clinical signs and laboratory findings. bone marrow biopsies were carried out, and a diagnosis of HPS was made. Preeclampsia developed in the 27th week and it became severe. cesarean section was performed in the 29th week because of severe preeclampsia, intrauterine growth retardation (IUGR), and fetal distress. The courses of mother and newborn were uneventful. We discuss the mechanism of AT in the treatment of this syndrome and the association between this syndrome and severe preeclampsia. In conclusion, AT concentrate was very effective in suppressing cytokine production, and the possibility that severe preeclampsia developed because of hypercytokinemia, which may be one of the pathogeneses of severe preeclampsia and IUGR, was suggested.- - - - - - - - - - ranking = 0.5keywords = ring (Clic here for more details about this article) |
10/273. amniotic band syndrome in triplet pregnancy.We present a case of amniotic band syndrome leading to encephalocele in one triplet. In this case, discordance in fetal growth was observed at 9 weeks' gestation, and the amniotic membrane was not recognized in the sac of the smallest fetus. Thus, significant first-trimester growth discordance in multifetal pregnancies suggests congenital anomalies, and examinations considering amniotic band syndrome should be performed. Absence of the amniotic membrane in the gestational sac may be a useful marker of amniotic band syndrome.- - - - - - - - - - ranking = 0.5keywords = ring (Clic here for more details about this article) |
| | Next -> |