|
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
|
- Bold indicates a major category
- CHD, congenital heart disease; NCA, numerical chromosomal abnormality; DR, detection rate; CNV, copy number variation; pCNV, pathogenic copy number variation;VSD, ventricular septal defect; ASD, atrial septal defect; AVSD, atrioventricular septal defect; DORV, double outlet right ventricle; d-TGA, d-transposition of great arteries; IAA, interrupted aortic arch; LVOTO, left ventricular outflow tract obstruction; RVOTO, right ventricular outflow tract obstruction
