Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age
Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age
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DOI：
10.1016/j.siny.2010.10.003
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发表时间：
2011-04-01
影响因子：
3
通讯作者：
Lo, Y. M. Dennis
中科院分区：
文献类型：
--
作者：
Chiu, Rossa W. K.;Lo, Y. M. Dennis
产前诊断是产科保健的重要组成部分。在目前的产前方案中，对胎儿遗传或染色体疾病的明确诊断是通过羊膜穿刺术或绒毛取样来进行的。为了避免与侵入性取样程序相关的胎儿流产风险，我们一直在开发基于孕妇血浆中无细胞胎儿DNA分析的非侵入性产前诊断测试。到目前为止，通过循环胎儿DNA分析来确定胎儿性别和恒河猴D状态的方法在许多中心都在临床上进行。已经开发了用于单基因疾病的非侵入性诊断的策略。通过下一代测序已经实现了对胎儿21三体的准确检测。一旦开发出具有成本效益和高通量的方案，许多非侵入性产前检测就可以立即引入临床。(C)2010爱思唯尔有限公司。保留所有权利。
Prenatal diagnosis is an important part of obstetrics care. In the current prenatal programmes, definitive diagnosis of fetal genetic or chromosomal conditions is conducted through fetal sampling by amniocentesis or chorionic villus sampling. To obviate the risks of fetal miscarriage that are associated with the invasive sampling procedures, we have been developing non-invasive prenatal diagnostic tests based on cell-free fetal DNA analysis from maternal plasma. To date, fetal sex and rhesus D status determination by circulating fetal DNA analysis is performed clinically in many centres. Strategies for the non-invasive diagnosis of monogenic diseases have been developed. Accurate detection of fetal trisomy 21 by next-generation sequencing has been achieved. Many of the non-invasive prenatal tests could be introduced to the clinics as soon as cost-effective and high throughput protocols are developed. (C) 2010 Elsevier Ltd. All rights reserved.