Chromosome microarray analysis in the investigation of children with congenital heart disease

BMC Pediatrics

Table 1 Data of pathogenic copy number variants (PCNVs) in children with congenital heart disease (CHD) and CHD classification

CHD Classification	Simple CHD			Associate CHD			Total
CHD Classification	No. PCNVs	No. tested	PR (%)	No. PCNVs	No. tested	PR (%)	No. PCNVs	No. tested	PR (%)
Septal defect	9	37	24.3	1	6	16.8	10	43	23.3
ASD	5	18	27.8	0	0	0	5	18	27.8
VSD	4	19	21.1	0	0	0	4	19	21.1
VSD + ASD	0	0	0	1	6	16.8	1	6	16.8
AVSD	0	1	0	0	2	0	0	3	0
Conotruncal defects	1	3	33.3	1	13	7.8	2	16	12.5
TOF	1	3	33.3	1	2	50	2	5	40
D-TGA	0	0	0	0	11	0	0	11	0
LVOTO	2	5	40	3	9	33.3	5	14	35.7
COA	0	2	0	1	4	25	1	6	16.7
AS	2	3	66.7	0	1	0	2	4	50
IAA, A	0	0	0	2	2	100	2	2	100
COA + AS	0	0	0	0	2	0	0	2	0
RVOTO	3	3	100	2	8	25	5	11	45.5
PS/PA	3	3	100	2	8	25	5	11	45.5
LVOTO + RVOTO	0	0	0	3	4	75	3	4	75
AS + PS	0	0	0	3	4	75	3	4	75
Single Ventricle	0	0	0	0	1	0	0	1	0
PDA	4	12	33.3	0	0	0	4	12	33.3
Total	19	62	30.6	10	43	23.2	29	104	27.9

PR positive rate, ASD atrial septal defect, VSD ventricular septal defect, AVSD atrioventricular septal defect, TOF tetralogy of Fallot, D-TGA d-transposition of the great arteries, COA coarctation of the aorta, AS aortic stenosis, IAA interruption arterial arch, PS pulmonary stenosis, PA pulmonary atresia, PDA patent ductus arteriosus, LVOTO Left ventricular outflow tract obstruction, RVOTO Right ventricular outflow tract obstruction

ISSN: 1471-2431