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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 genetic and genomic medicine Title + abstract only
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ObjectiveTo 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. MethodsWe retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment-based GW-NIPT between August 2023 and July 2025. CNV analysis was performed using BinDel and WisecondorX. ResultsFF enrichment increased median FF to 24% (2.4-fold increase). Clinically...

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