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Table 4 Influencing factors of NIPS detection efficiency

From: Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants

Factors

Prenatal diagnosis by CMA

PPV (%)

p value

n

TP

FP

CNVs characteristic

Segment gains

69

26

43

37.7

0.782

Segment losses

27

11

16

40.7

CNVs size

 < 3 Mb

39

19

20

48.7

0.170

3 Mb ~ 5 Mb

29

12

17

41.4

5 Mb ~ 10 Mb

7

3

4

42.9

 > 10 Mb

21

3

18

14.3

Fetal fraction

 < 10%

33

9

24

27.3

0.101

 ≥ 10%

63

28

35

44.4

Unique reads

 < 3 Mb

52

18

34

34.6

0.762

3 Mb ~ 4 Mb

36

15

21

41.7

 > 4 Mb

8

4

4

50.0

CNVs Z-score

Within 3

68

32

36

47.1

0.007

Beyond 3

28

5

23

17.9

Chromosome grouping

A group (chr 1,2,3)

15

9

6

60.0

0.021

B group (chr 4,5)

16

8

8

50.0

C group (chr 6,7,8,9,10,11,12)

21

1

20

4.8

D group (chr 13,14,15)

14

6

8

42.9

E group (chr 16,17,18)

17

7

10

41.2

F group (chr 19,20)

2

1

1

50.0

G group (chr 21,22)

11

5

6

45.5