Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study.

ABSTRACT:

Background

Next-generation sequencing (NGS) and discovery of fetal cell-free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies. The approach is called "fetal cfDNA screening" and in contrast to noninvasive conventional serum screening, it provides the identification of 98%-99% of fetuses with Down syndrome.

Methods

Retrospective analysis of targeted noninvasive prenatal testing (NIPT) (Clarigo Test) pregnancies with moderate risk, which we have reported between 2016 and 2018 years is presented. Two separate laboratory workflows and NGS platforms are used for the same targeted NIPT analysis.

Results

In total, 4,594 pregnant women were investigated. Initial 3

SUBMITTER: Koc A 

PROVIDER: S-EPMC6625369 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature