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Table 4 Information and pregnancy outcome of different sizes of CNVs

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

Size of CNV

Number of samples, n (%)

Average size of CNV (Mb)

Overlap of HI, n (%)

Outcome of pregnancy, n (%)

Normal infants

Abnormal pregnancy outcomes

Voluntary TOP

 < 1 Mb

98

(73.1%)

0.39

37 (37.8%)

82 (83.7%)

8 (8.2%)

8 (8.2%)

1-3 Mb

20

(14.9%)

2.01

2 (10.0%)

13 (65.0%)

2 (10.0%)

5 (25.0%)

 > 3 Mb

16

(11.9%)

4.46

2 (12.5%)

9 (56.3%)

3 (18.8%)

4 (25.0%)

Total

134

(100.0%)

1.11

41 (30.6%)

104 (77.6%)

13 (9.7%)

17 (12.7%)

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