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Genome-wide cell-free DNA screening: a focus on copy-number variants

21 Jun 2021

Abstract excerpt

PURPOSE: Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screening. METHODS: Cases positive for one or more subchromosomal CNV from genome-wide cfDNA screening and diagnostic outcomes were compiled. Diagnostic testing...

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PMID: 34155363
DOI: 10.1038/s41436-021-01227-5

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