Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort.

ABSTRACT:

Objective

To estimate performance of a single-nucleotide polymorphism-based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations on single venopuncture.

Methods

One thousand sixty-four maternal blood samples from 7 weeks of gestation and beyond were included; 1,051 were within specifications and 518 (49.3%) were low risk. Cell-free DNA was amplified, sequenced, and analyzed using the Next-generation Aneuploidy Test Using SNPs algorithm. Samples were called as trisomies 21, 18, 13, or monosomy X, or euploid, and male or female.

Results

Nine hundred sixty-six samples (91.9%) successfully generated a cell-free DNA result. Among these, sensitivity was 100% for trisomy 21 (58/58, confidence interval [CI] 93.8-100%), trisomy 13 (12/12, CI 7

SUBMITTER: Pergament E 

PROVIDER: S-EPMC4144440 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature