Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants.

ABSTRACT:

Purpose

Pregnant women have unprecedented choices for prenatal screening and testing. Cell-free DNA (cfDNA) offers the option to screen for aneuploidy of all chromosomes and genome-wide copy-number variants (CNVs), expanding screening beyond the common trisomies ("traditional" cfDNA). We sought to review the utilization trends and clinical performance characteristics of a commercially available genome-wide cfDNA test, with a subset having available diagnostic testing outcomes.

Methods

Retrospective analysis of 55,517 samples submitted for genome-wide cfDNA screening at a commercial laboratory, assessing indications, demographics, results, and performance. The cohort was broken into three "testing years"' to compare trends.

Results

Indications shifted over time, with a

SUBMITTER: Soster E 

PROVIDER: S-EPMC8257487 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature