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Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies
Author(s) -
Boon Elles M. J.,
Faas Brigitte H. W.
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4111
Subject(s) - trisomy , aneuploidy , massive parallel sequencing , cell free fetal dna , prenatal diagnosis , fetus , prenatal screening , chromosome , computational biology , medicine , genome , biology , obstetrics , bioinformatics , genetics , pregnancy , gene
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. © 2013 John Wiley & Sons, Ltd.