Table 2 Types of congenital heart disease and frequencies for fetuses with chromosomal abnormalities
CHD classfication | No. tested | Aneuploidies | significant CNVs | Total | DR (%) |
|---|---|---|---|---|---|
Septal defects | 60 | 7 | 5 | 12 | 20.0 |
VSD | 55 | 6 | 4 | 10 | 18.2 |
VSD + ASD | 5 | 1 | 1 | 2 | 40.0 |
Conotruncal defects | 49 | 4 | 9 | 12 | 24.5 |
Truncus arteriosus | 4 | 0 | 0 | 0 | 0 |
IAA | 8 | 0 | 2 | 2 | 25.0 |
d-TGA | 8 | 0 | 1 | 1 | 12.5 |
DORV | 11 | 1 | 2 | 2 | 18.2 |
TOF | 18 | 3 | 4 | 7 | 38.9 |
LVOTO | 29 | 4 | 3 | 7 | 24.1 |
HLHS | 11 | 1 | 1 | 9.1 | |
Coarctation of aorta | 10 | 3 | 2 | 5 | 50.0 |
Aortic stenosis | 8 | 0 | 1 | 1 | 12.5 |
RVOTO | 19 | 1 | 3 | 4 | 21.1 |
Pulmonary stenosis | 12 | 1 | 2 | 3 | 25.0 |
Pulmonary atresia | 2 | 0 | 1 | 1 | 50.0 |
Tricuspid atresia | 5 | 0 | 0 | 0 | 0 |
AVSD | 11 | 4 | 2 | 6 | 54.5 |
Complex CHD | 22 | 3 | 4 | 7 | 31.8 |
Multiple, complex heart anomaly | 19 | 3 | 4 | 7 | 36.8 |
Single ventricle | 2 | 0 | 0 | 0 | 0 |
L-TGA | 1 | 0 | 0 | 0 | 0 |
Heterotaxy | 2 | 0 | 0 | 0 | 0 |
Other CHD | 8 | 0 | 0 | 1 | 12.5 |
Total | 200 | 23 | 26 | 49 | 24.5 |