Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA

被引：55
作者：
Chitty, Lyn S. [1 ,2 ,3 ]
Lo, Y. M. Dennis [4 ,5 ]
机构：
[1] UCL Inst Child Hlth, Genet & Genom Med, London WC1N 1EH, England
[2] Univ Coll London Hosp NHS Fdn Trust, London NW1 2PG, England
[3] Great Ormond St Hosp Children NHS Fdn Trust, NE Thames Reg Genet Serv, London WC1N 3BH, England
[4] Chinese Univ Hong Kong, Li Ka Shing Inst Hlth Sci, Ctr Res Circulating Fetal Nucle Acids, Shatin, Hong Kong, Peoples R China
[5] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Chem Pathol, Shatin, Hong Kong, Peoples R China
来源：
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE | 2015年 / 5卷 / 09期
关键词：
FREE FETAL DNA; CELL-FREE DNA; CONGENITAL ADRENAL-HYPERPLASIA; SEX CHROMOSOMAL ANEUPLOIDIES; DOWN-SYNDROME; WHOLE GENOME; DIGITAL PCR; MONOGENIC DISEASES; PREGNANT-WOMEN; TRISOMIES; 21;
D O I：
10.1101/cshperspect.a023085
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
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.
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页数：20
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