Launch of the national newborn screening for spinal muscular atrophy in Sweden

On August 30, 2023, the National Board of Health and Welfare introduced national screening for spinal muscular atrophy (SMA) in newborns. The following documents were published: a report with recommendations on how the screening should be organized, indicators to follow up on the implementation results, and updated regulations.

SMA test should be included in the newborn screening with the so-called PKU test. The screening test aims to identify children with homozygous deletion in the SMN1 gene and 1–3 copies of the SMN2 gene. Screening will not currently include tests to identify children with four copies of the SMN2 gene.

The National Board estimates that seven children will be detected per year with the screening program. As a result, those affected by the most severe forms of SMA can receive treatment before the onset of symptoms.

See the full details in Swedish here.

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