Table 1.
Published results of US-based newborn screening (NBS) programs screening for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I). Georgia data from this study are included in the last row.
| Region Screened | Methodology | Interpretation | Disorder | # Screened | Screen Positive | True Positives | PPV (%) | Screen Positive Rate (%) |
|---|---|---|---|---|---|---|---|---|
| Illinois [7] | MSMS (1 tier) | % daily median | Pompe | 219,973 | 139 | 10 | 7.2 | 0.06 |
| MPS I | 219,973 | 151 | 1 | 0.7 | 0.07 | |||
| Kentucky [1] | MSMS (2 tier) | Post-analytical tools | Pompe | 55,161 | 2 | 2 | 100.0 | <0.002 |
| MPS I | 55,161 | 2 | 1 | 50.0 | <0.002 | |||
| Missouri [6] | Digital microfluidics | Cutoff | Pompe | ~308,000 | 161 | 32 | 19.9 | 0.05 |
| MPS I | ~308,000 | 133 | 2 | 1.5 | 0.04 | |||
| New York [5] | MSMS (1 tier) | % daily mean | Pompe | 18,105 | 6 | 1 | 16.7 | 0.03 |
| MPS I | 35,816 | 13 | 0 | 0.0 | 0.04 | |||
| North Carolina [8] | MSMS (2 tier) + Sequencing | Cutoff (Initial) | MPS I | 62,734 | 54 | 1 | 1.9 | 0.09 |
| Georgia | MSMS (2 tier) | Post-analytical tools | Pompe | 59,332 | 6 | 4 | 66.7 | 0.01 |
| MPS I | 59,332 | 11 | 0 | 0.0 | 0.02 |