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Findings from the first 36 months of Massachusetts’ SMA NBS.
| Infants Whose Specimens | SMA NBS Interpretation | Number of Infants |
|---|---|---|
| Showed Exon 7 to be present in Tier 1 | In Range | 179,153 |
| Showed Exon 7 to be absent in Tier 1 | ||
| Showed absent Exon 7 in Tier 2 | Out of Range | 10 1 |
| Showed evidence of an SMN1 hybrid in Tier 2 | In Range | 10 |
| Showed evidence of present SMN1 in Tier 2 | In Range | 294 |
| TOTAL SCREENED | 179,467 |
1 All were referred to specialists; includes one baby with a false-positive NBS result.
