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Table 2 Incidence of aneuploidy, pathogenic, likely pathogenic, and variants of uncertain significance CNVs in four groups of pregnant women (%)

From: The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities

 

n

aneuploidy

Pathogenic CNVs

Likely pathogenic

CNVs

Total known pathogenic

and likely pathogenic

findings

variants of uncertain significance CNVs

22q11.2

Other

Total

Isolated CHD group

170

6(3.5)

5(2.9)

9(5.3)

14(8.2)

0(0)

20(11.8)

14(8.2)

Non-isolated CHD group

68

19(27.9)

3(4.4)

7(10.3)

10(14.7)

0(0)

29(42.6)

6(8.8)

Non-CHD

group

538

46(8.6)

2(0.4)

28(5.2)

30(5.6)

2(0.4)

78(14.5)

28(5.2)

Control group

1316

78(5.9)

5(0.4)

37(2.8)

42(3.2)

3(0.4)

123(9.3)

41(3.1)

P-value

 

< 0.001

< 0.001

0.005

< 0.001

 -

< 0.001

0.031