Table 3.
Combinations of clinical features meeting criteria for a good test (discriminant ability >80%) for detecting patients likely to have 22q11.2 deletion syndrome in 103 adults with congenital heart disease
| Criteria a (2 to 5 items) | Optimal cut-off number of items | Number of observations b total (with, without 22q11.2DS) | Subjects with the feature
|
Sensitivity at cut-off (%) | Specificity at cut-off (%) | PPVa (%) | NPVa (%) | Discriminant ability at cut-off
|
||
|---|---|---|---|---|---|---|---|---|---|---|
| With 22q11.2DS | No 22q11.2 deletion | % | 95% Confidence interval | |||||||
| Dys, Voice | 2 of 2 | 98 (30, 68) | 26 | 16 | 86.7 | 76.5 | 61.9 | 92.9 | 81.6 | (73.6, 89.6) |
| Dys, Lbd | 2 of 2 | 96 (30, 66) | 29 | 21 | 96.7 | 68.2 | 58.0 | 97.8 | 82.4 | (75.9, 89.0) |
| Dys, Calcium, Age |
2 of 3 | 97 (30, 67) | 28 | 18 | 93.3 | 73.2 | 60.9 | 96.1 | 83.2 | (76.2, 90.3) |
| Dys, Voice, Lbd | 3 of 3 | 95 (30, 65) | 25 | 11 | 83.3 | 83.1 | 69.4 | 91.5 | 83.2 | (75.0, 91.4) |
| Dys, Voice, Lbd, Age | 3 of 4 | 95 (30, 65) | 30 | 19 | 100.0 | 70.8 | 61.2 | 100.0 | 85.4 | (79.8, 91.0) |
| Dys, Lbd, Calcium, Age | 3 of 4 | 94 (30, 64) | 27 | 12 | 90.0 | 81.3 | 69.2 | 94.6 | 85.6 | (78.3, 92.9) |
| Dys, Voice, Lbd, Calcium, Age | 3 of 5 | 93 (30, 63) | 30 | 19 | 100.0 | 69.8 | 61.2 | 100.0 | 84.9 | (79.2, 90.6) |
a
Dys = global dysmorphic facial pattern characteristic of 22q11.2DS; Voice = voice abnormalities; Lbd = learning/behavioural difficulties history; Age = age <30 years; Calcium = hypocalcaemia history; PPV: positive predictive value; NPV: negative predictive value.
b
Where presence or absence of the feature was recorded.