Newborn screening for spinal muscular atrophy: What must the pediatrician know?

Abstract

In December 2020 the Federal Joint Committee in Germany decided that screening for spinal muscular atrophy (SMA) should be included in the general newborn screening. This decision was based on the fact that targeted treatment options had become available for patients with SMA and that the time at which treatment is started is crucial for the success of the therapy. Newborn screening for SMA is based on the detection of a homozygous deletion of exon 7 in the SMN1 gene by molecular genetic analysis from the dried blood card. In all cases confirmatory diagnostics from a second blood sample must be performed as part of confirmation diagnostics with determination of the SMN2 copy number. Further consultation and treatment should be carried out in a neuropediatric outpatient center with experience in the treatment of children with SMA.