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Breaking the 7 Mb barrier: Clinical cohort validation of genome-wide NIPT with fetal fraction enrichment and BinDel for detection of 1 Mb microdeletions and - duplications

2026-02-11

Abstract excerpt

<h4>Objective</h4> To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome-wide noninvasive prenatal testing (GW-NIPT) for detection of clinically relevant copy number variants (CNVs) down to 1 Mb. <h4>Methods</h4> We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment-based GW-NIPT between August 2023 and July 2025. CNV analysis was performed using...

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Literature Corpus work
a64954e3-c816-5c57-94c2-0c527068b22a
DOI
10.64898/2026.02.10.26345955
Open publication

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Breaking the 7 Mb barrier: Clinical cohort validation of genome-wide NIPT with fetal fraction enrichment and BinDel for detection of 1 Mb microdeletions and - duplicationsDOI 10.64898/2026.02.10.26345955
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