Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing.

Abstract:

:The discovery of cell-free fetal DNA molecules in plasma of pregnant women has created a paradigm shift in noninvasive prenatal testing (NIPT). Circulating cell-free DNA in maternal plasma has been increasingly recognized as an important proxy to detect fetal abnormalities in a noninvasive manner. A variety of approaches for NIPT using next-generation sequencing have been developed, which have been rapidly transforming clinical practices nowadays. In such approaches, the fetal DNA fraction is a pivotal parameter governing the overall performance and guaranteeing the proper clinical interpretation of testing results. In this review, we describe the current bioinformatics approaches developed for estimating the fetal DNA fraction and discuss their pros and cons.

journal_name

Int J Mol Sci

authors

Peng XL,Jiang P

doi

10.3390/ijms18020453

subject

Has Abstract

pub_date

2017-02-20 00:00:00

issue

2

issn

1422-0067

pii

ijms18020453

journal_volume

18

pub_type

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