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Table 4 The PPVs according to different CNV sizes

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

CNV size

NIPT positive

TP

FP

Unverified

PPV (%)

≤ 5 Mb

37

5

19

13

20.83

Within 5–10 Mb

17

6

6

5

50.00

> 10 Mb

55

9

24

22

27.27

Total

109

20

49

40

28.99

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Human Genomics

ISSN: 1479-7364