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Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies

24 Jan 2025

Abstract excerpt

PURPOSE: To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT. METHODS: Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January...

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PMID: 39854358
DOI: 10.1371/journal.pone.0312184

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