Genome-Wide Cell-Free DNA Screening: A Focus on Copy-Number Variants

Abstract

(Abstracted from Genet Med 2021;23:1847–1853) In 2015, a study found that traditional cell-free DNA (cfDNA) screening had the capability to detect approximately 70% to 80% of the karyotypic abnormalities identified in fetuses and infants. The remaining 20% to 30% that are missed include clinically relevant findings such as subchromosomal deletions and duplications, rare autosomal aneuploidies, and polyploidy, representing an area of growth for prenatal screening tests, and genome-wide cfDNA screening is now available.