Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA.

ABSTRACT:

Background

Plasma DNA obtained from a pregnant woman contains a mixture of maternal and fetal DNA. The fetal DNA proportion in maternal plasma is relatively consistent as determined using polymorphic genetic markers across different chromosomes in euploid pregnancies. For aneuploid pregnancies, the observed fetal DNA proportion measured using polymorphic genetic markers for the aneuploid chromosome would be perturbed. In this study, we investigated the feasibility of analyzing single nucleotide polymorphisms using targeted massively parallel sequencing to detect such perturbations in mothers carrying trisomy 21 fetuses.

Methodology/principal findings

DNA was extracted from plasma samples collected from fourteen pregnant women carrying singleton fetuses. Hybridization-based t

SUBMITTER: Liao GJ 

PROVIDER: S-EPMC3362548 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature