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Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing

21 Feb 2025

Abstract excerpt

BACKGROUND: Current non-invasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) mainly targets the detection of chromosome aberrations but not dominant single-gene disorders (dSGDs). AIM: This prospective pilot study aims to evaluate the clinical utility of a plasma cfDNA and targeted next-generation sequencing-based NIPT approach for dSGDs (NIPT-dSGD), with a particular focus on neurodevelopmental...

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Share to Genomic variations and chromosomal abnormalities
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PMID: 39982402
DOI: 10.1093/qjmed/hcaf017

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