Related Experiment Video
Updated: Jan 14, 2026
10:02
A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy
Published on: November 3, 2016
25.4K
Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.
Emilie Groulx-Boivin1,2, Ariane Belzile2, Cam-Tu Émilie Nguyen3
1Departments of Pediatrics and Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, QC H4A 3H9, Canada.
International Journal of Neonatal Screening
|October 24, 2025
Summary
Quebec's newborn screening for spinal muscular atrophy (SMA) identified affected infants early, enabling prompt treatment and improving motor outcomes. The program established the provincial SMA birth prevalence, highlighting the need for faster sample processing.
Area of Science:
- Genetics
- Neurology
- Public Health
Background:
- Early treatment of spinal muscular atrophy (SMA) significantly improves clinical outcomes.
- Newborn screening (NBS) for SMA is increasingly implemented globally due to treatment advancements.
- The province of Quebec initiated its SMA NBS program in October 2023.
Purpose of the Study:
- To evaluate the first-year experience of the Quebec SMA NBS program.
- To determine the screening yield and birth prevalence of SMA in Quebec.
- To assess clinical outcomes and identify challenges in the program's initial phase.
Main Methods:
- Prospective analysis of newborns screened through the Quebec SMA NBS program over its first year.
- Confirmation of positive screening results through diagnostic testing.
- Tracking of clinical presentation, SMN2 copy number, treatment initiation, and motor outcomes.
Main Results:
- Six newborns screened positive for SMA out of 67,933 screened infants.
- Provincial birth prevalence of SMA was estimated at 1 in 9705 live births.
- Treated infants showed stable or improved motor function at 3-6 months; however, one symptomatic infant with two SMN2 copies died.
Conclusions:
- The Quebec SMA NBS pilot program successfully identified newborns with SMA and facilitated early treatment.
- The program provided the first provincial estimate of SMA birth prevalence.
- Enhancing sample shipping and processing times is crucial for maximizing the program's impact.
