Non-invasive prenatal testing for Down syndrome

被引：26
作者：
Twiss, Philip [1 ]
Hill, Melissa [1 ]
Daley, Rebecca [1 ]
Chitty, Lyn S. [1 ,2 ]
机构：
[1] Great Ormond St Hosp Children NHS Fdn Trust, NE Thames Reg Genet Serv, London WC1N 3BH, England
[2] UCL Inst Child Hlth, London WC1N 1EH, England
来源：
SEMINARS IN FETAL & NEONATAL MEDICINE | 2014年 / 19卷 / 01期
关键词：
Cell-free fetal DNA; Down syndrome; Fetal aneuploidy; Non-invasive prenatal testing; Prenatal diagnosis; FREE FETAL DNA; CELL-FREE DNA; SINGLE-GENE DISORDERS; MATERNAL PLASMA; CLINICAL UTILITY; WHOLE GENOME; DIAGNOSIS; ANEUPLOIDY; BLOOD; WOMEN;
D O I：
10.1016/j.siny.2013.10.003
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Prenatal screening and diagnosis of Down syndrome and other major aneuploidies may be transformed following the identification of cell-free fetal DNA in maternal plasma at the end of the last millennium. Next generation sequencing has enabled the development of tests that accurately predict the presence of fetal trisomies by analysis of cell-free DNA in maternal blood from as early as 10 weeks of gestation. These tests are now widely available in the commercial sector but are yet to be implemented in publicly led health services. In this article we discuss the technical, social, and ethical challenges that these new tests bring. (C) 2013 Elsevier Ltd. All rights reserved.
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收藏
页码：9 / 14
页数：6
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