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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
Alba Berzal-Serrano1,2, Belén García-Bohórquez1,2,3, Elena Aller1,2,3,4
1Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
International Journal of Neonatal Screening
|January 23, 2025
Summary
Newborn screening for spinal muscular atrophy (SMA) is crucial for early diagnosis. This study found an incidence of 1/7890, highlighting the need for widespread newborn screening programs to enable timely treatment.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Spinal muscular atrophy (SMA) is a severe neuromuscular disease caused by SMN1 gene deletion.
- Early diagnosis and treatment before symptom onset significantly improve patient outcomes.
- Newborn screening (NBS) is vital for identifying SMA cases at the earliest stage.
Purpose of the Study:
- To evaluate the effectiveness of a quantitative PCR (qPCR) screening test for SMA using dried blood spots (DBS).
- To determine the incidence of SMA in the Valencian Community, Spain, through NBS.
- To assess the feasibility of early intervention for SMA detected via NBS.
Main Methods:
- Screening of 31,560 dried blood spot samples using qPCR for SMN1 exon 7.
- Genetic confirmation of positive SMA cases using multiplex ligation-dependent probe amplification (MLPA) and AmplideX PCR/CE SMN1/2 Plus kit.
- Analysis of SMN2 gene copy number in confirmed SMA patients.
Main Results:
- Identified 4 positive SMA cases out of 31,560 screened samples, yielding an incidence of 1/7890.
- Two diagnosed infants presented with severe hypotonia, rendering them ineligible for treatment.
- Two presymptomatic infants with two copies of SMN2 received timely Risdiplam treatment.
- Genetic confirmation and SMN2 copy number analysis were concordant.
Conclusions:
- Widespread implementation of SMA newborn screening is essential for early detection and intervention.
- Timely diagnosis through NBS allows for presymptomatic treatment, significantly improving prognosis.
- The study underscores the necessity of official SMA NBS programs for optimal patient care.
