1/220. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.A male patient with aphallia, anal stenosis, tetralogy of fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
2/220. 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 = 4keywords = pregnancy (Clic here for more details about this article) |
3/220. trisomy 2 in an acardiac twin in a triplet in-vitro fertilization pregnancy.A case is reported of twin reversed arterial perfusion (TRAP) sequence in a triamniotic dichorionic triplet pregnancy conceived by in-vitro fertilization which was diagnosed at 25 weeks of gestation by colour Doppler sonography. It highlights the risk of monochorionicity-associated morbidity in multiple pregnancies obtained by assisted conception and stresses the importance of chorionicity determination by early ultrasound examination. cytogenetic analysis of skin from the acardius showed trisomy 2 in all cells, whereas the karyotype in the monochorionic triplet was normal. This is an example of heterokaryotypic monozygotism where the chromosomal abnormality must have occurred during the early cleavage divisions. aneuploidy as a possible aetiological factor of TRAP sequence is discussed.- - - - - - - - - - ranking = 8.7378471944937keywords = gestation, pregnancy (Clic here for more details about this article) |
4/220. Prenatal findings in trisomy 16q of paternal origin.A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. Prenatal karyotyping was offered but refused by the patient. The fetus was delivered by Caesarean section due to fetal distress at 36 weeks of gestation. The neonate, weighing 2150 g was transferred to the neonatal intensive care unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY der(20)t(16;20)(q12.1;p13)pat. The maternal karyotype was unremarkable, whereas the father had the translocation t(16;20)(q12.1;p13). Necropsy confirmed all the prenatal findings. These are discussed together with the implications of the chromosomal diagnosis and the pertinent literature is reviewed.- - - - - - - - - - ranking = 7.4756943889874keywords = gestation (Clic here for more details about this article) |
5/220. Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation.- - - - - - - - - - ranking = 7.4756943889874keywords = gestation (Clic here for more details about this article) |
6/220. Double-outlet right ventricle with intact ventricular septum in a foetus with trisomy-18.A rare case of double-outlet right ventricle with intact ventricular septum diagnosed by foetal echocardiography at 21 weeks of gestation is described. amniocentesis revealed trisomy-18. The cardiac diagnosis was confirmed at autopsy.- - - - - - - - - - ranking = 3.7378471944937keywords = gestation (Clic here for more details about this article) |
7/220. Acardiac acephalus: a case report and implications on expectant management.Acardiac acephalus is a rare occurrence resulting from extensive anastomoses between the vessels of the monochorionic twins which invariably leads to death of the "perfused" twin and an estimated 50% perinatal mortality rate in the "pump" twin, due mainly to premature delivery or congestive heart failure. Once diagnosis has been documented, blocking the vascular flows between the twins has been the principle goal of treatment with the assumption that a more favorable chance of survival in the pump twin can be achieved. However, hasty surgical intervention without a well-designed preoperative evaluation may result in unfavorable outcomes. A 21-year-old nullipara was found to carry an acardiac parabiotic twin in a monochorionic twin pregnancy at 28 weeks of gestation and was referred to us from a local clinic. Expectant management based on the close monitoring of the well-being of the healthy co-twin is presented in this article along with review of published works on the management of this rare condition.- - - - - - - - - - ranking = 4.7378471944937keywords = gestation, pregnancy (Clic here for more details about this article) |
8/220. Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease.We report the prenatal diagnosis, at 18 weeks' gestational age of a del(8)(p23.1-->pter) in a fetus with an atrio-ventricular canal, persistent left superior vena cava and hypoplastic right ventricle detected by sonographic imaging. We further refine the breakpoints associated with this defect using fluorescent in situ hybridization analysis (FISH). Our findings correlate with recent reports of the localization and importance of GATA4 (a zinc finger transcription factor) in cardiac development. Though microcephaly, mental retardation and typical behavioural features are well described in various deletions in 8p, the absence of notable microcephaly in this case raises the possibility for a separate genetic aetiology for some of these features. Indeed, primary autosomal recessive microcephaly (MCPH1) was recently mapped to a nearby region and may be the cause for this frequent observation in some cases of 8p deletions. These observations illustrate the role of FISH in prenatal diagnosis and refinement of chromosomal breakpoints. In addition, mappings of loci significant for cardiac development are presented. Our findings suggest that some features of the 8p deletion syndrome may ultimately be uncoupled from one another, and underscore the need for further study of this region of chromosome 8, in order to achieve adequate information for genetic counselling.- - - - - - - - - - ranking = 3.7378471944937keywords = gestation (Clic here for more details about this article) |
9/220. Congenital heart disease in pregnancy.The clinical cases of three patients affected respectively by Eisenmerger's syndrome, marfan syndrome, coarctation of the aorta are described. All patients belonged to NYHA class I or II. During pregnancy contact with cardiologists, anaesthetists, neonatologists was maintained and this allowed accurate management. Both pregnancy and delivery evolved without any complication and with a positive outcome for mother and newborn.- - - - - - - - - - ranking = 6keywords = pregnancy (Clic here for more details about this article) |
10/220. Morphological aspects of ectopia cordis: four case reports and a review of the literature.ectopia cordis is a rare congenital anomaly. We present 4 cases of ectopia cordis, 1 of which is the first report of an affected fetus in a triplet pregnancy. The morphological relationship between the types of ectopia cordis and their outcomes were investigated in all 4 cases. In addition, the literature on ectopia cordis in japan was reviewed and discussed.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
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