Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.

ABSTRACT:

Purpose

Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations.

Methods

We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number

SUBMITTER: Skotko BG 

PROVIDER: S-EPMC11682703 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature