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

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

Types of CHD	Number of fetuses	Number of fetuses with aneuploidy		Number of fetuses with CNVs				Total
Types of CHD	Number of fetuses	Number of fetuses with aneuploidy	22q11.2 deletion	The deletion of 22q CES region	22q11.2 duplication	22q13.3 deletion	17p13.3 deletion	Total
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 %)

CHD congenital heart defects, CNVs copy number variants, CES cat eye syndrome

ISSN: 1755-8166