Fig. 1.

The clinical pathway from pre-screening, screening to diagnosis in the pilot newborn screening for spinal muscular atrophy.

DBS (dried blood spot), MDT (multidisciplinary), NBS (newborn screening), NM (neuromuscular), NSW (New South Wales)

*Parents invited to participate in the study.

# The screening pathway evolved during the pilot study such that all infants with 0 SMN1 were all screened positive. The rationale for this was to enable proficiency testing. Consequently, SMN2 copy number did not determine screen positivity in this pilot and a single individual with 4 SMN2 was identified in the second year.