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Table 1 Summary of aneuploidy and CNVs detected from 225 fetuses with CHD

From: Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect

Types of CHD Number of fetuses Number of fetuses with aneuploidy   Number of fetuses with CNVs Total
22q11.2 deletion The deletion of 22q CES region 22q11.2 duplication 22q13.3 deletion 17p13.3 deletion
Conotruncal defect 85 8 6 1 1 1 1 18
Septal defect 104 17 1 0 0 0 0 18
Left-heart defect 7 0 0 0 0 0 0 0
Right-heart defect 1 0 0 0 0 0 0 0
Other heart defect 28 5 0 0 0 0 0 5
Total 225 30 (13.3 %) 7 (3.1 %) 1 (0.4 %) 1 (0.4 %) 1 (0.4 %) 1 (0.4 %) 41 (17.8 %)
  1. CHD congenital heart defects, CNVs copy number variants, CES cat eye syndrome