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

Erica Soster, Theresa Boomer, Susan Hicks, Samantha Caldwell, Brittany Dyr, Jason Chibuk and Eyad Almasri
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.