Table 4 FRP and PPV in NBGS and Enzyme activity screening group
From: Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China
Disease | Enzyme activity-first strategy | NBGS-first strategy | ||||
|---|---|---|---|---|---|---|
Krabbe | GSD II | NPD-A/B | Krabbe | GSD II | NPD-A/B | |
True negative | 885 | 888 | 896 | 892 | 896 | 898 |
False negative | 2 | 0 | 0 | 0 | 0 | 0 |
True positive | 6 | 1 | 1 | 8 | 1 | 1 |
False positive | 7 | 11 | 3 | 0 | 3 | 1 |
False positive (exclude NBGS carrier) | 2 | 2 | 2 | - | - | - |
Sensitivity | 75% | 100% | 100% | 100% | 100% | 100% |
Specificity | 99.22% | 98.78% | 99.67% | 100% | 99.67% | 99.89% |
Specificity (exclude NBGS carrier) | 99.77% | 99.78% | 99.78% | - | - | - |
FPR | 0.78% | 1.22% | 0.33% | 0% | 0.33% | 0.11% |
FPR (exclude NBGS carrier) | 0.23% | 0.22% | 0.22% | - | - | - |
FNR | 25% | 0% | 0% | 0% | 0% | 0% |
PPV | 46.15% | 8.33% | 25% | 100% | 25% | 50% |
PPV (exclude NBGS carrier) | 75% | 33.33% | 33.33% | - | - | - |
Kappa index | 0.5667 | 0.1521 | 0.3989 | 1 | 0.3989 | 0.6662 |