Table 5.
Screening Performance Metrics of Extracardiac Anomalies (ECA) Status for Genetic Diagnoses Identified in Congenital Heart Disease.
| Variable | Genetic Diagnosis (n) | Predictive Values (%) for ECA Status | Clinical Utility Index (CUI) for ECA Status (Positive and Negative) |
|
|---|---|---|---|---|
| ECA Status | Yes | No | ||
| Yes | 166 | 267 | ECA(+) = 0.3834 (38.3%) |
CUI(+) = 0.2608 * |
| No | 78 | 502 | ECA(−) = 0.8655 (86.6%) |
CUI(−) = 0.5650 * |
| PSI = 0.2489 (24.9%) ** |
SUI = 0.8258 † | |||
| Screening Metrics of ECA Status | ||||
| Sensitivity | 0.6803 | |||
| Specificity | 0.6528 | |||
| Accuracy | 0.6594 | |||
| Youden Index | 0.3331 | |||
| Number Needed to Diagnose (NND) | 3.00 | |||
|
Evaluation of ECA Status as
Predictor of Genetic Diagnoses | ||||
| Wald X2 (p-value) |
Odds Ratio [95% CI] | AUC [95% CI] | Brier Score | |
| ECA Status (positive vs. negative) |
78.2 (p < 0.0001) |
4.0 [2.9, 5.4] |
0.667 [0.633, 0.700] | 0.168 |
* CUI: Clinical Utility Index for positive and negative ECA status (CUI(+) and CUI(−), respectively); CUI(+) is calculated by [sensitivity*PPV] and CUI(−) is calculated by [specificity*NPV]. † SUI: Summary Utility Index = ΣCUI(+, −) ** Predictive Summary Index (PSI), an indicator for net gain in certainty of prediction: PPV + NPV-1. A PSI of 24.9% indicates that ECA status adds incrementally to predictive capability, though it is low to moderate. The number needed to predict (NNP) = 1/PSI = 4.0.