Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA
Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA
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DOI：
10.1101/cshperspect.a023085
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发表时间：
2015-09-01
影响因子：
5.4
通讯作者：
Lo, Y. M. Dennis
中科院分区：
文献类型：
--
作者：
Chitty, Lyn S.;Lo, Y. M. Dennis
1997年在母体血浆中鉴定出无细胞胎儿DNA（cffDNA），预示着产科护理几十年来最重大的变化，基于母体血液分析的更安全的筛查和诊断的出现。在这里，我们描述了下一代测序提供的技术进步如何允许开发一种高度敏感的非整倍体筛查试验以及某些单基因疾病的产前分子诊断。
The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the advent of safer screening and diagnosis based on analysis of maternal blood. Here, we describe how the technological advances offered by next-generation sequencing have allowed for the development of a highly sensitive screening test for aneuploidies as well as definitive prenatal molecular diagnosis for some monogenic disorders.