Newborn screening for Spinal Muscular Atrophy (SMA) will be introduced in Sweden

10

Feb 2023

On January 24, 2023, the Swedish National Board of Health and Welfare recommended introducing a national screening program for spinal muscular atrophy (SMA) in newborns.

The National Board of Health and Welfare investigated two different scenarios of screening programs:

  • Scenario 1: Children with a homozygous deletion in the SMN1 gene and 1–4 copies of the SMN2 gene are identified by screening. Children with 1–3 copies of the SMN2 gene receive drug treatment immediately. Children with four copies of the SMN2 gene are followed up;
  • Scenario 2: Children with a homozygous deletion in the SMN1 gene and 1–3 copies of the SMN2 gene are identified by screening and receive drug treatment immediately.

Scenario 2 showed a clear benefit, was cost-effective and ethically motivated. Thus, the National Board of Health and Welfare recommends screening for SMA with a homozygous deletion in SMN1 and 1–3 SMN2 copies. A broader scenario (1) identifying newborns with four copies of the SMN2 gene is not currently recommended.

SMA test will be included in the existing newborn screening, the so-called PKU test. The new screening program will start after the National Board of Health and Welfare publish the updated regulations (scheduled for summer 2023).

See more information in Swedish here.

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