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Table 2 CNV information and pregnancy outcome of CNVs grouped by parent-of-origin

From: Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities

Group

Number of samples, n (%)

Overlap of HI, n (%)

Average size of CNV(Mb)

Outcome of pregnancy, n (%)

Normal infants

Abnormal pregnancy outcomes

Voluntary TOP

 Detection of parent-of-origin

82

(61.2%)

25

(30.5%)

1.07

62

(75.6%)

7

(8.5%)

13

(15.9%)

 Inherited

60

(73.2%)

15

(25.0%)

0.81

55

(91.7%)

4

(6.7%)

1

(1.7%)

 De novo

22

(26.8%)

10

(45.5%)

1.77

7

(31.8%)

3

(13.6%)

12

(54.5%)

 Unknown origin

52

(38.8%)

16

(30.8%)

1.18

42

(80.8%)

6

(11.5%)

4

(7.7%)

Total

134

(100.0%)

41

(30.6%)

1.11

104

(77.6%)

13

(9.7%)

17

(12.7%)

  1. CNV, copynumbervariation; HI, Haploinsufficiency; TOP, termination of pregnancy