Table 2 Prevalence structural chromosome abnormalities and sequence variants for specific diagnoses.
From: The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
Genetic diagnosis | Uncertain significance | ||||||||
|---|---|---|---|---|---|---|---|---|---|
Yes | No | OR | 95% CI | p | |||||
Interrupted aortic archb | 10 | 71.4% | 4 | 28.6% | 13.7 | 4.22–44.57 | <0.001a | 0 | 0.0% |
isolated | 8 | 66.7% | 4 | 33.3% | 0 | 0.0% | |||
Pulmonary atresia with VSD | 5 | 41.7% | 7 | 58.3% | 3.7 | 1.16–11.92 | 0.03a | 0 | 0.0% |
isolated | 1 | 16.7% | 5 | 83.3% | 0 | 0.0% | |||
AVSD, unbalanced | 3 | 33.3% | 6 | 66.7% | 2.6 | 0.63–10.38 | 0.18 | 0 | 0.0% |
isolated | 1 | 20.0% | 4 | 80.0% | 0 | 0.0% | |||
AVSD, balanced | 8 | 28.6% | 19 | 67.9% | 2.2 | 0.94–5.17 | 0.11 | 1 | 3.6% |
isolated | 4 | 21.1% | 14 | 73.7% | 1 | 5.3% | |||
Isolated right aortic arch | 2 | 28.6% | 5 | 71.4% | 2.0 | 0.39–10.60 | 0.33 | 0 | 0.0% |
isolated | 1 | 16.7% | 5 | 83.3% | 0 | 0.0% | |||
Truncus arteriosus | 4 | 25.0% | 11 | 68.8% | 1.9 | 0.58–5.95 | 0.29 | 1 | 6.3% |
isolated | 4 | 36.4% | 7 | 63.6% | 0 | 0.0% | |||
Tetralogy of Fallot | 12 | 21.1% | 43 | 75.4% | 1.5 | 0.74–2.85 | 0.28 | 2 | 3.5% |
isolated | 8 | 17.0% | 38 | 80.9% | 1 | 2.1% | |||
Valvular aortic stenosis | 5 | 20.0% | 20 | 80.0% | 1.3 | 0.47–3.46 | 0.59 | 0 | 0.0% |
isolated | 2 | 10.0% | 18 | 90.0% | 0 | 0.0% | |||
Ventricular septal defect | 19 | 17.8% | 84 | 78.5% | 1.2 | 0.68–2.01 | 0.58 | 4 | 3.7% |
isolated | 6 | 8.5% | 63 | 88.7% | 2 | 2.8% | |||
Left isomerism | 2 | 16.7% | 10 | 83.3% | 1.0 | 0.22–4.65 | 1.00 | 0 | 0.0% |
isolated | 1 | 25.0% | 3 | 75.0% | 0 | 0.0% | |||
DORV-Fallot type | 5 | 16.7% | 23 | 76.7% | 1.1 | 0.41–2.95 | 0.80 | 2 | 6.7% |
isolated | 2 | 12.5% | 14 | 87.5% | 0 | 0.0% | |||
DORV-Taussig Bing | 3 | 13.0% | 18 | 78.3% | 0.8 | 0.24–2.88 | 1.00 | 2 | 8.7% |
isolated | 2 | 10.5% | 16 | 84.2% | 1 | 5.3% | |||
Hypoplastic aortic arch | 1 | 12.5% | 6 | 75.0% | 0.8 | 0.10–7.02 | 1.00 | 1 | 12.5% |
isolated | 1 | 20.0% | 4 | 66.7% | 1 | 16.7% | |||
Hypoplastic left heart syndrome | 6 | 11.5% | 44 | 84.6% | 0.7 | 0.28–1.61 | 0.36 | 2 | 3.8% |
isolated | 5 | 11.6% | 38 | 84.4% | 2 | 4.4% | |||
Aortic coarctation | 5 | 7.7% | 55 | 84.6% | 0.4 | 0.17–1.10 | 0.07 | 5 | 7.7% |
isolated | 3 | 5.8% | 49 | 86.0% | 5 | 8.8% | |||
Valvular pulmonary stenosis | 2 | 6.7% | 22 | 73.3% | 0.4 | 0.10–1.93 | 0.40 | 6 | 20.0% |
isolated | 2 | 8.7% | 21 | 77.8% | 4 | 14.8% | |||
Hypoplastic right heart syndrome | 1 | 6.7% | 12 | 80.0% | 0.4 | 0.05–3.21 | 0.71 | 2 | 13.3% |
isolated | 0 | 0.0% | 10 | 83.3% | 2 | 16.7% | |||
TGA (with significant VSD or PS) | 1 | 5.0% | 18 | 90.0% | 0.3 | 0.04–2.06 | 0.34 | 1 | 5.0% |
isolated | 1 | 5.9% | 16 | 94.1% | 0 | 0.0% | |||
TGA (simple) | 2 | 4.3% | 44 | 93.6% | 0.2 | 0.05–0.90 | 0.02a | 1 | 2.1% |
isolated | 2 | 4.4% | 43 | 93.5% | 1 | 2.2% | |||
Tricuspid valve atresia | 1 | 4.0% | 23 | 92.0% | 0.2 | 0.03–1.58 | 0.16 | 1 | 4.0% |
isolated | 1 | 4.8% | 20 | 90.9% | 1 | 4.5% | |||
Double inlet left ventricle | 0 | 0.0% | 6 | 85.7% | n/a | 0.60 | 1 | 14.3% | |
isolated | 0 | 0.0% | 6 | 85.7% | 1 | 14.3% | |||
TAPVC | 0 | 0.0% | 10 | 90.9% | n/a | 0.38 | 1 | 9.1% | |
isolated | 0 | 0.0% | 8 | 88.9% | 1 | 11.1% | |||
Miscellaneous | 14 | 15.9% | 68 | 77.3% | 6 | 6.8% | |||
Total | 111 | 15.7% | 558 | 78.8% | 39 | 5.5% | |||
