Not all low fetal fraction cell-free DNA screening failures are at increased risk for aneuploidy.

ABSTRACT:

Objective

To evaluate cell-free DNA (cfDNA) redraws and pregnancy outcomes following low fetal fraction (FF) cfDNA failures, as it has been suggested that a failed cfDNA screen due to insufficient FF carries increased risk for fetal aneuploidy.

Methods

Here >200,000 consecutive samples were reviewed and >1,100 patients were identified with a failed cfDNA due to low FF using genome-wide massively parallel sequencing. Redraw results following the initial low FF failure were analyzed, as well as pregnancy outcomes for patients with repeated low FF failure on redraw.

Results

Upon redraw 84.2% of samples yielded a reportable result with no enrichment of aneuploidy observed (p = 0.332). Higher maternal weights and multifetal pregnancy rates were observed in samples with ins

SUBMITTER: Caldwell S 

PROVIDER: S-EPMC8596865 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature