Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

被引：48

作者：

Boon, Elles M. J. ^{[1
]}

Faas, Brigitte H. W. ^{[2
]}

机构：

[1] Leiden Univ, Med Ctr, Lab Diagnost Genome Anal, Dept Clin Genet, Leiden, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

来源：

PRENATAL DIAGNOSIS | 2013年 / 33卷 / 06期

关键词：

CELL-FREE DNA; MATERNAL PLASMA; SIZE DISTRIBUTIONS; DIGITAL PCR; DIAGNOSIS; ABNORMALITIES; TRISOMY-21; LIGATION;

D O I：

10.1002/pd.4111

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The goal to noninvasively detect fetal aneuploidies using circulating cell-free fetal DNA in the maternal plasma seems to be achieved by the use of massively parallel sequencing (MPS). To date, different MPS approaches exist, all aiming to deliver reliable results in a cost effective manner. The most widely used approach is the whole genome MPS method, in which sequencing is performed on maternal plasma to determine the presence of a fetal trisomy. To reduce costs targeted approaches, only analyzing loci from the chromosome(s) of interest has been developed. This review summarizes the different MPS approaches, their benefits and limitations and discusses the implications for future noninvasive prenatal testing. (c) 2013 John Wiley & Sons, Ltd.

引用

页码：563 / 568

页数：6

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