应用基因组杂交、单核苷酸芯片及二代测序技术开展植入前染色体异常诊断

doi:10.7504/fk2014060121

摘要/Abstract

摘要：

流产是导致妊娠失败的最常见原因，其中因染色体异常导致的流产占早期自然流产的一半。胚胎染色体异常一部分是由于胚胎发育异常，一部分与遗传相关。我国普通人群中染色体异常的发生率为0.5%~1.0%，而在有不良孕产史的患者中发生率则高达2%~10%。随着辅助生殖技术的发展，体外受精-胚胎移植（IVF-ET）的临床妊娠率有了显著提高，但胚胎着床率却维持在20%左右，其中染色体异常是造成人类胚胎低着床率和早期妊娠丢失的一个很重要原因。

关键词: 植入前诊断, 染色体异常, aCGH, SNParray, 二代测序

Key words: premplantation diagnosis,chromosome abnormality, aCGH, SNParray, next generation sequencing

中图分类号:

Ｒ711.6

范俊梅1，李娜2，刘忠宇1，马慜悦1，王辉1,3，舒军萍1，姚元庆1. 应用基因组杂交、单核苷酸芯片及二代测序技术开展植入前染色体异常诊断[J]. 中国实用妇科与产科杂志, DOI: 10.7504/fk2014060121.

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（2014-01-20收稿    2014-04-15修回）

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