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Unique Challenges of NIPT for Sex Chromosome Aneuploidy

24 Jul 2023

Abstract excerpt

Noninvasive prenatal testing (NIPT) for the sex chromosome aneuploidies (45,X, 47,XXY, 47,XXX, and 47,XYY) differs significantly from that for the autosomal aneuploidies (trisomy 13, 18, and 21). As a group, sex chromosome aneuploidies occur more commonly (1/400) than any one isolated autosomal aneuploidy, the phenotypic variation is greater, the role of mosaicism more challenging, and the positive predictive...

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Share to Genetic Syndromes and Imprinting
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PMID: 37650669
DOI: 10.1097/grf.0000000000000804

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