Real-life implementation of prenatal cell-free DNA screening with in vitro fetal enrichment virtually eliminates the need for redraws and improves performance: A cohort study.

ABSTRACT:

Purpose

Insufficient fetal fraction is a significant cause of prenatal cell-free DNA (cfDNA) screening failure, affecting 2% to 5% of samples, particularly among women with high body mass index (BMI). We evaluated the clinical impacts of in vitro fetal enrichment in a public prenatal cfDNA screening laboratory, hypothesizing that it would lower failure rates.

Methods

This cohort study analyzed 8551 consecutive samples from pregnant women at an ISO15189-accredited prenatal cfDNA screening laboratory. We compared 4893 samples tested before and 3651 samples after implementing fetal enrichment. Samples were collected from January 2021 to October 2023 from high-risk (4809) pregnant women enrolled in the public Quebec Prenatal Screening Program (including 7 lost to follow-up and w

SUBMITTER: Giroux S 

PROVIDER: S-EPMC12593624 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature