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Aude Tessier Mélie Sarreau Fanny Pelluard Gwenaelle André Sophie Blesson Martine Bucourt Pierre Dechelotte Laurence Faivre Thierry Frébourg Alice Goldenberg Valérie Goua Corinne Jeanne-Pasquier Fabien Guimiot Annie Laquerriere Nicole Laurent Mathilde Lefebvre Philippe Loget Martine Maréchaud Charlotte Mechler Marie-Josée Perez Jean Christophe Sabourin Alain Verloes Sophie Patrier Anne-Marie Guerrot 《黑龙江环境通报》2016,36(13):1270-1275
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E. Machevin-Surugue N. David E. Verspyck G. Labadie G. Blaysat I. Durand V. Ickowicz L. Marpeau 《黑龙江环境通报》2002,22(10):898-902
The dilated coronary sinus (DCS) has only recently been clearly visualised in the fetus due to progress in prenatal echography. This is a retrospective study of 22 fetuses presenting with DCS revealed by prenatal echography. We report the circumstances leading to the detection of a DCS and the neonatal outcome of these fetuses. The coronary sinus was defined as dilated depending on its visualisation in cross-section from the ‘4 chamber’ view, as well as a pseudo inter-atrial septal defect from a more posterior view. In each case the gestational age, circumstances of detection, associated anomalies and postnatal outcome are reported. The circumstances were: evaluation of a clearly identified DCS in four cases and during detailed fetal echocardiography because of suspected congenital heart disease in 18 cases. Five cases were associated with a cardiac anomaly, three with an extracardiac anomaly, six with both cardiac and extracardiac anomaly and eight were isolated. Postnatal outcome was related to the associated anomaly. In conclusion, it is important that the echography image be correctly interpreted, as a DCS often implies possible associated defects and therefore affects prognosis. When not associated with other anomalies this condition is not considered serious. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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Paule Bénit Jean-Paul Bonnefont Ali Kara Mostefa Christine Francannet Arnold Munnich Pierre F. Ray 《黑龙江环境通报》2001,21(4):279-283
Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献