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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

NIPT

Trisomy 21

Trisomy 18

Trisomy 13

SCAs

Other chromosome aneuploidy

CNVs

Total

Positive

155

44

33

147

46

109

534

TP

103

17

4

37

3

20

184

FP

27

14

25

75

29

49

219

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