Sweden Introduces Newborn Screening for SMA

The National Board of Health and Welfare in Sweden introduced national screening for spinal muscular atrophy (SMA) in newborns. Alongside the announcement, the following documents were published: a report with recommendations on how the screening should be organised, indicators to follow up on the implementation of the programme, and updated regulations.

It was recommended that an SMA test should be included in existing newborn screening tests. 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 through the screening program. As a result, those affected by the most severe forms of SMA will be able to receive treatment before the onset of symptoms.

Further information can be downloaded at the following link:
https://www.socialstyrelsen.se/kunskapsstod-och-regler/regler-och-riktlinjer/nationella-screeningprogram/slutliga-rekommendationer/spinal-muskelatrofi/

The documents are in Swedish, though you can translate the webpage into English via Google Translate (through Chrome).