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 & Eyad Almasri
MaterniTGENOME clinical experience study • First 3 years of samples of MaterniT GENOME testing – 55,517 consecutive samples • Overall positivity rate ~5%, of which 25% would be missed with traditional cfDNA screening • >40% of screen-positive results had diagnostic testing • High sensitivity, specificity, and PPV were observed, Genome-wide CNVs PPV = 72.6%