Skip to main content

Table 2 Types of congenital heart disease and frequencies for fetuses with chromosomal abnormalities

From: Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study

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
  1. Bold indicates a major category
  2. 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