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Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies

18 Aug 2025

Abstract excerpt

OBJECTIVE: Genome-wide non-invasive prenatal testing (GW-NIPT) for prenatal screening has been widely implemented. However, the related clinical data is still insufficient. Here, we evaluated the clinical performance of GW-NIPT as a first-tier screening test for detecting fetal aneuploidy and copy number variation (CNV). METHODS: The study included 59,877 pregnant women who underwent GW-NIPT at Shenzhen Baoan...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 40824895
DOI: 10.1371/journal.pone.0329463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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