Table 2.
Performance criteria of LSD newborn screening assays in the Missouri and Illinois public health laboratories.
| GAA (Pompe) | IDUA (MPS I) | GLA (Fabry) | GBA (Gaucher) | |||||
|---|---|---|---|---|---|---|---|---|
| MO (DMF) | IL (MS/MS) | MO (DMF) | IL (MS/MS) | MO (DMF) | IL (MS/MS) | MO (DMF) | IL (MS/MS) | |
| Total infants | 308,000 | 219,793 | 308,000 | 219,793 | 308,000 | 219,793 | 308,000 | 219,793 |
| Screen Positives | 161 | 139 | 133 | 151 | 179 | 107 | 37 | 117 |
| Pending | 0 | 8 | 0 | 24 | 0 | 16 | 0 | 19 |
| Refused/Lost to f.u./Died | 2 | n/a | 5 | n/a | 12 | n/a | 2 | n/a |
| Normal | 48 | 87 | 45 | 87 | 66 | 59 | 22 | 91 |
| Carrier | 39 | 15 | 8 | 5 | 0 | 0 | 5 | 0 |
| Pseudodeficient | 31 | 15 | 63 | 30 | 0 | 16 | 0 | 0 |
| Undetermined /VUS/GUS 3 | 9 | 4 | 2 | 4 | 6 | 6 | 2 | 2 |
| Confirmed Positive | 32 | 10 | 2 | 1 | 94 | 10 | 5 | 5 |
| PPV 1 | 26% | 11% | 3% | 4% | 60% | 18% | 21% | 7% |
| False Positive rate 2 | 0.04% | 0.05% | 0.04% | 0.06% | 0.02% | 0.03% | 0.01% | 0.04% |
| False positives per 100,000 | 38.3 | 53.2 | 37.7 | 55.5 | 21.4 | 34.1 | 8.8 | 41.4 |
1 Positive predictive value (PPV) calculated as [confirmed pos + VUS]/[screen pos + lost + refused + died]; 2 False positive rate (FPR) calculated as: normal + carrier + pseudo/total; 3 Undetermined/VUS/GUS includes samples with 1 pathogenic mutation + 1 VUS, 2 VUSs, or single VUS for Fabry. VUS: Variant of unknown significance; GUS: Genotype of unknown significance or onset.