Table 2. Summary of NBS pilot study data.
| Program | Started | Method | Number | Observed incidence | False-positive rate |
|---|---|---|---|---|---|
| Missouri 69 | 2013 | Digital microfluidic enzyme assay | 43,701 | Fabry (1:2,913) Gaucher (1:43,701) Pompe (1:5,463) MPS 1 (1:14,567) |
Fabry (0.025%) Gaucher (0.020%) Pompe (0.009%) MPS 1 (0.037%) |
| Washington 70 | 2012 | MS/MS | 111,544 | Fabry (1:16,667) Pompe (1:30,000) MPS 1 (1:30,000) |
Fabry (0.01%) Pompe (0.012%) MPS 1 (0.006%) |
| New York State 68 | 2006 | MS/MS | 550,000 | Krabbe (1:50,000) | N/A |
| Austria 64 | 2010 | LC-MS/MS | 34,736 | Fabry (1:3,859) Gaucher (1:17,368) Pompe (1:8,684) Niemann-Pick A/B (N/A) |
Fabry (0.055%) Gaucher (0.006%) Pompe (0.003%) Niemann-Pick A/B (0.003%) |
| Japan 67 | 2013 | Fluorometric enzyme assay | 21,170 | Fabry (1:7,057) | Fabry (0.018%) |
| Italy 65 | 2003 | Fluorometric enzyme assay | 37,104 | Fabry (1:3,100) | Fabry (0.078%) |
| Hungary 66 | 2012 | MS/MS | 40,024 | Fabry (1:13,341) Gaucher (1:13,341) Pompe (1:4,447) Niemann-Pick A/B (1:20,012) |
Fabry (0.080%) Gaucher (0.035%) Pompe (0.14%) Niemann-Pick A/B (0.007%) |
| Taiwan 61 | 2012 | Modified Fluorometric enzyme assay | 473,738 | Pompe (1:16,900) | Pompe (0.47%) |
| Illinois 71 | 2011 | Digital microfluidic enzyme assay | 8,012 | Fabry (1:1,144) Gaucher (1:4,006) |
Fabry (0.05%) Gaucher (0.25%) Pompe (0.025%) |
Abbreviations: LS-MS/MS, liquid chromatography mass spectrometry; MS/MS, tandem mass spectrometry; N/A, (data) not available; NBS, newborn screening.