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胎儿先天性心脏发育异常的遗传咨询

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Author:: No author available

Journal Title:: Chinese Journal of Obstetrics and Gynecology

Issue:: 11

DOI:: 10.3760/cma.j.issn.0529-567x.2018.11.015

Key Word:: No keyword available

Abstract：先天性心脏病(congenital heart disease,CHD)是常见的出生缺陷,其发生率约占所有新生儿异常的1%[1],是世界范围内儿童死亡的主要原因之一[1].目前,成年CHD患者的总体存活率>90%[2].CHD的病因尚不清楚,可能是遗传因素和非遗传因素的相互作用,其中遗传因素不可忽视.随着各项产前筛查手段的不断进展,遗传咨询也变得越来越复杂,因而为CHD胎儿提供个体化及全面的评估变得更具有挑战性.本文旨在总结各种CHD胎儿的遗传学检测手段及影像学检查,为CHD患儿提供相关的表型表达、临床预后、长期生存率及更佳的遗传咨询建议.

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