Table 2.
The ability of individual clinical features to distinguish adults with congenital heart disease who have 22q11.2 deletions
| Clinical features | Number of observations a | Sensitivity (%) | Specificity (%) | PPV b (%) | NPV b (%) | Discriminant ability
|
|
|---|---|---|---|---|---|---|---|
| (%) | 95% Confidence interval | ||||||
| Global dysmorphic facial pattern | 99 | 100.0 | 52.2 | 47.6 | 100.0 | 76.1 | (70.2, 82.0) |
| Voice abnormalities (including hypernasal) | 99 | 86.7 | 62.3 | 50.0 | 91.5 | 74.5 | (66.0, 83.0) |
| Learning/behavioural difficulties in school | 100 | 96.8 | 42.0 | 42.9 | 96.7 | 69.4 | (62.7, 76.1) |
| Age <30 years | 103 | 87.1 | 51.4 | 43.6 | 90.2 | 69.2 | (60.9, 77.6) |
| Speech problems | 102 | 71.0 | 64.8 | 46.8 | 83.6 | 67.9 | (58.0, 77.7) |
| Childhood infections | 100 | 79.3 | 56.3 | 42.6 | 87.0 | 67.8 | (58.3, 77.3) |
| Ear dysmorphism | 84 | 76.9 | 58.6 | 45.5 | 85.0 | 67.8 | (57.3, 78.2) |
| Hand dysmorphism | 90 | 53.9 | 70.3 | 42.4 | 79.0 | 62.1 | (50.8, 73.4) |
| Mouth dysmorphism | 86 | 45.8 | 77.4 | 44.0 | 78.7 | 61.6 | (50.2, 73.1) |
| Hypocalcaemia (history) | 100 | 25.8 | 95.7 | 72.7 | 74.1 | 60.7 | (52.5, 68.9) |
| Eye dysmorphism | 89 | 84.0 | 36.0 | 33.9 | 85.2 | 60.0 | (50.5, 69.4) |
| Nose dysmorphism | 90 | 76.0 | 40.0 | 32.8 | 81.3 | 58.0 | (47.6, 68.4) |
| Behavioural abnormalities | 99 | 53.3 | 58.0 | 35.6 | 74.1 | 55.7 | (44.8, 66.5) |
| Facial shape dysmorphism | 89 | 61.5 | 49.2 | 33.3 | 75.6 | 55.4 | (44.0, 66.8) |
| Non-cardiac birth defects | 95 | 50.0 | 56.5 | 30.2 | 75.0 | 53.3 | (41.8, 64.7) |
| Thyroid abnormalities (history) | 101 | 16.1 | 88.6 | 38.5 | 70.5 | 52.4 | (44.8, 59.9) |
| Hearing problems | 103 | 19.4 | 81.9 | 31.6 | 70.2 | 50.7 | (42.3, 59.0) |
| Behavioural/psychiatric problems (history) | 102 | 41.9 | 59.2 | 31.0 | 70.0 | 50.6 | (40.0, 61.1) |
a
Where presence/absence of the feature was recorded.
b
PPV: positive predictive value; NPV: negative predictive value.