Several countries have already deployed pilot programs for newborn screening in the SMA, such as Germany, Australia, the United States, Taiwan …
In Belgium, a three-year pilot program (March 2018-February 2021) took place in the area of Liège before extending to the whole of southern Belgium:
- 9 newborns out of 136,339 tested were diagnosed as suffering from SMA with homozygous loss of SMN1, corresponding to an incidence of 1/15,149;
- 1 newborn was subsequently diagnosed after the onset of symptoms, at the age of 4 months; he had a heterozygous loss of the SMN1 gene;
- all 10 newborns were able to benefit from treatment.
Based on these results, this newborn screening program for SMA has become official since March 1, 2021 in the south of Belgium and should also become official in 2022 in the north of the country.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Boemer F, Caberg JH, Beckers P et al. Sci Rep. 2021 (Oct).11(1):19922.
Voir aussi « SMA : expérience réussie du dépistage néonatal en Belgique »