Newborn screening for SMA in Southern Belgium

Neuromuscul Disord. 2019 May;29(5):343-349. doi: 10.1016/j.nmd.2019.02.003. Epub 2019 Feb 15.


Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is warranted. We describe the stepwise process that led us to launch a newborn screening program for SMA in Southern Belgium. Different political, ethical, and clinical partners were informed about this project and were involved in its governance, as were genetic and screening labs. We developed and validated a newborn screening method to specifically recognize homozygous deletions of exon 7 in the SMN1 gene. Subsequently, a 3-year pilot study has been recently initiated in one Belgian neonatal screening laboratory to cover 17.000 neonates per year. Coverage extension to all of Southern Belgium to screen 55.000 babies each year is underway.

Keywords: Newborn screening; SMN1; Spinal muscular atrophy; Werdnig-Hoffmann disease; qPCR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Belgium
  • Early Diagnosis
  • Early Medical Intervention
  • Gene Deletion
  • Homozygote
  • Humans
  • Infant, Newborn
  • Neonatal Screening / ethics
  • Neonatal Screening / legislation & jurisprudence
  • Neonatal Screening / organization & administration*
  • Oligonucleotides / therapeutic use
  • Pilot Projects
  • Spinal Muscular Atrophies of Childhood / diagnosis*
  • Spinal Muscular Atrophies of Childhood / drug therapy
  • Spinal Muscular Atrophies of Childhood / genetics
  • Stakeholder Participation
  • Survival of Motor Neuron 1 Protein / genetics


  • Oligonucleotides
  • SMN1 protein, human
  • Survival of Motor Neuron 1 Protein
  • nusinersen