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Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndrome

9 Jul 2025

Abstract excerpt

Non-invasive prenatal testing (NIPT) has been endorsed by the American College of Medical Genetics and Genomics as the preferred method for screening fetal 22q11.2 deletion syndrome (22q11.2 DS). Maternal genomic aberrations represent a significant source of false positives in NIPT, and there are currently no solutions that effectively address this challenge. We have devised an innovative NIPT bioinformatics...

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Congenital heart defects research
Congenital Heart Disease Studies
Genomic variations and chromosomal abnormalities

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40634435
DOI: 10.1038/s41598-025-10446-8

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