Table 1 Incidence of the eight conditions screened by the 8-plex assay
Condition | Numbers of DBS samples failed in the 1st screen | Screen positives | Affected Numbers | Phenotype | Incidence (1 in) (95% CI) |
|---|---|---|---|---|---|
Pompe | – | 6 | 4 | 1 IOPD, 3 LOPD | 18,436 (7170-47,407) |
Fabry | 5 (0.01%) | 4 | 4 | 2 classic, 2 suspected classic | 18,436 (7170-47,407) |
Gaucher | 27 (0.04%) | 9 | 1 | type 3 | 73,743 (13,018-417,749) |
MPS I | 178 (0.24%) | 10 | 1 | suspected severe | 73,743 (13,018-417,749) |
MPS II | 56 (0.08%) | 32 | 3a | suspected mild | 24,581 (8360-72,277) |
MPS 3B | 14 (0.02%) | 3 | 3 | 24,581 (8360-72,277) | |
MPS 4A | 70 (0.09%) | 12 | 6 | 12,291 (5633-26,817) | |
MPS 6 | 11 (0.01%) | 0 | 0 | < 73,743 | |
ML | – | – | 1 | suspect ML-III | 73,743 (13,018-417,749) |
Total MPSs | 14 | 5267 (3138-8842) | |||
Total | 23 | 3206 (2137-4811) |