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 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| 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