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

17 Mar 2021

Abstract excerpt

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...

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PMID: 33731879
DOI: 10.1038/s41436-021-01135-8

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