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).

The current study analyzes testing trends from when genome-wide cfDNA analysis became available: assay version 4 (AV4) to assay version 5 (AV5).

Aneuploidy screening options are limited for multifetal pregnancies but a recent meta-analysis has shown that cfDNA for Trisomy 21 is superior to conventional screening in this population (Reference obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.20284). Our new study “A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gesta