1/579. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. methods: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/579. cytomegalovirus associated neonatal pneumonia and Wilson-Mikity syndrome: a causal relationship?lung injury caused by intrauterine inflammation has recently been strongly implicated in the pathogenesis of Wilson-Mikity syndrome (WMS). This article supports this theory by suggesting a causative role of intrauterine cytomegalovirus (CMV) infection for the development of WMS. A male premature infant, born at 33 weeks of gestational age, developed chronic lung disease compatible with WMS and diagnostic evaluation was positive for CMV infection. High-resolution computed tomography scan and lung histology revealed typical features of WMS in association with signs of interstitial pneumonia. CMV was found in urine, breastmilk, bronchoalveolar lavage material and lung tissue from open lung biopsy. Follow-up after treatment with ganciclovir and steroids showed resolving lung disease at the age of 6, 10 and 16 months, with lung function signs of mild obstruction. Assuming that a chance coexistence of cytomegalovirus pneumonia and Wilson-Mikity syndrome is rather unlikely, it is possible that intrauterine cytomegalovirus infection caused a pattern of lung injury consistent with Wilson-Mikity syndrome. Further cases of Wilson-Mikity syndrome should be investigated as to a possible role of congenital infection.- - - - - - - - - - ranking = 0.70666733941452keywords = gestation (Clic here for more details about this article) |
3/579. Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction.We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with hydranencephalic-hydrocephalic syndrome diagnosed by ultrasonography at gestation week 28, and who was treated during the neonatal period by implantation of a ventriculoperitoneal shunt. She showed severe mental retardation, and died at age 4 years following an acute respiratory infection. Due to persistently high lactic acid levels in blood, muscle and skin biopsies were taken. Analysis of muscle biopsies revealed microscopic and ultrastructural alterations typical of mitochondrial disorders, and low levels of complexes III and IV of the mitochondrial respiratory chain. The enzymes of the pyruvate dehydrogenase complex showed normal activities in cultured skin fibroblasts. These findings raise the possibility that at least some cases of congenital hydranencephalic-hydrocephalic syndrome may be due to alterations in the mitochondrial respiratory chain.- - - - - - - - - - ranking = 0.70666733941452keywords = gestation (Clic here for more details about this article) |
4/579. prenatal diagnosis of congenital varicella syndrome and detection of varicella-zoster virus in the fetus: a case report.Varicella syndrome (VS) specific malformations were sonographically seen at 22 weeks and 3 days of gestation. Fetal infection was demonstrated by detection of varicella-zoster virus (VZV) dna in fetal blood and amniotic fluid by polymerase chain reaction (PCR). Following therapeutic abortion, fetal infection was confirmed by detection of VZV dna in several fetal tissues and placenta, and by histopathological findings like miliary calcified necroses in fetal organs.- - - - - - - - - - ranking = 0.70666733941452keywords = gestation (Clic here for more details about this article) |
5/579. Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a U-shaped defect of the soft palate, marked postnuchal edema, absent olfactory bulbs, and cribriform plate and rib abnormalities. The ribs consisted of cartilage anteriorly, with only a small amount of fibrous tissue present laterally and posteriorly. The second fetus (12 weeks gestation) had agnathia, with a large U-shaped defect in the soft palate. There was moderate postnuchal edema. The ribs were unossified and there were gaps in the cartilage where primitive mesenchyme was present posteriorly and laterally. These findings are consistent with a severe form of cerebro-costo-mandibular syndrome. The early fetal histopathology of both cases suggests a possible mechanism by which the characteristic "rib gaps" of cerebro-costo-mandibular syndrome may develop, with evidence for abnormal function of a gene or genes involved in regulation of rib chondrogenesis.- - - - - - - - - - ranking = 2.1200020182436keywords = gestation (Clic here for more details about this article) |
6/579. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.- - - - - - - - - - ranking = 0.29333266058548keywords = pregnancy (Clic here for more details about this article) |
7/579. association of misoprostol, Moebius syndrome and congenital central alveolar hypoventilation. Case report.We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.- - - - - - - - - - ranking = 0.29333266058548keywords = pregnancy (Clic here for more details about this article) |
8/579. pregnancy following bromocryptine therapy for the amenorrhoea-galactorrhoea syndrome due to a pituitary tumour.A woman developed amenorrhoea and galactorrhoea after partial removal of a pituitary tumor during pregnancy. Hyperprolactinaemia was supressed by therapy with bromocryptine (CB 154, Sandoz) resulting in cessation of galactorrhoea in two months, spontaneous menstruation after eight months, and pregnancy after twelve months.- - - - - - - - - - ranking = 0.58666532117096keywords = pregnancy (Clic here for more details about this article) |
9/579. Developmental delay in fetal aminopterin/methotrexate syndrome.Maternal exposures to aminopterin and methotrexate have been associated with a pattern of malformation which includes prenatal-onset growth deficiency, severe lack of ossification of the calvarium, hypoplastic supraorbital ridges, small, low-set ears, micrognathia, and limb abnormalities. We report on a patient whose mother received methotrexate during the first trimester of pregnancy and who, in addition to the structural anomalies typical of maternal methotrexate exposure, has significant developmental delay. This is the third patient exposed to folic acid antagonists with mental retardation, providing further evidence that developmental delay is one feature of fetal aminopterin-methotrexate syndrome. Therefore, it is recommended that formal developmental testing be performed in all patients prenatally exposed to methotrexate.- - - - - - - - - - ranking = 0.29333266058548keywords = pregnancy (Clic here for more details about this article) |
10/579. Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis.Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome.- - - - - - - - - - ranking = 0.29333266058548keywords = pregnancy (Clic here for more details about this article) |
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