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Table 2 Performance of non-invasive prenatal testing (NIPT) chromosome aneuploidy

From: Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

NIPTTrisomy 21Trisomy 18Trisomy 13SCAsOther chromosome aneuploidyCNVsTotal
Positive155443314746109534
TP10317437320184
FP271425752949219
PPV`79.23%54.84%13.79%33.04%9.38%28.99%45.66%
  1. TP true positive, FP false positive, PPV positive predictive value, SCAs sex chromosomal aneuploidies, CNV copy-number variations
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Human Genomics

ISSN: 1479-7364