Table 2.
Prevalence structural chromosome abnormalities and sequence variants for specific diagnoses.
| 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% | |||
Data are given as n (%).
aP-value < 0.05 was considered statistically significant.
b8/10 with a pathogenic variant was diagnosed with 22q11 deletion syndrome.
VSD ventricular septal defect, AVSD atrioventricular septal defect, DORV double outlet right ventricle, TGA transposition of the great arteries, VUS variant of uncertain significance, PS pulmonary valve stenosis, TAPVC total anomalous pulmonary vein connection.