宫内诊断的无创化与分子化

摘要/Abstract

摘要：

对特定孕妇开展宫内诊断可以有效降低新生儿的出生缺陷率。常规的非侵入性、侵入性宫内诊断方法如影像学检查，绒毛取样、羊膜腔穿刺、脐带血穿刺获取胎儿组织、细胞行染色体检查、FISH检测等手段存在各自的局限性。微芯片技术、孕妇外周血浆游离DNA检测技术、新一代高通量测序技术的迅速发展，可以在一定程度上与传统手段形成有效互补，使得宫内诊断的发展呈现出无创化与分子化的趋势。

关键词: 微芯片, 血浆游离DNA, 新一代测序, 无创产前检测

Abstract:

Abstract:Intrauterine diagnosis of a specific group of pregnant women can reduce the rate of birth defects. Conventional non-invasive and invasive intrauterine diagnostic methods such as imaging observations, chorionic villus sampling/amniocentesis/umbilical cord blood puncture procedures coupling with fetal chromosome karyotyping or FISH detection have their own limitations. The rapid development of microarray technology, maternal plasma cell-free DNA detection technology and the next-generation DNA sequencing technology, are rapidly transforming the whole field to the non-invasive and molecular level, and present a new era of intrauterine diagnosis.

Key words: microarray, cell-free DNA, next-generation sequencing, noninvasive prenatal testing

中图分类号:

R714

李浩贤,邬玲仟. 宫内诊断的无创化与分子化[J]. 中国实用妇科与产科杂志.

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