Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community

Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 (SMN1) gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving...

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Published inInternational journal of neonatal screening Vol. 11; no. 1; p. 7
Main Authors Berzal-Serrano, Alba, García-Bohórquez, Belén, Aller, Elena, Jaijo, Teresa, Pitarch-Castellano, Inmaculada, Rausell, Dolores, García-García, Gema, Millán, José M.
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 14.01.2025
MDPI
Subjects
Adolescence
Age
Atrophy
Child development
dried blood spot
Health aspects
Infants (Newborn)
Informed consent
Medical research
Medical screening
Mortality
multiplex qPCR
Neurophysiology
newborn screening
Pilot projects
Proteins
Public health
SMN1
Spinal muscular atrophy
Spain
multiplex qPCR
spinal muscular atrophy
SMN1
dried blood spot
newborn screening
Online AccessGet full text
ISSN2409-515X
2409-515X
DOI10.3390/ijns11010007

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Summary:Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 (SMN1) gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of SMN1 using dried blood spot (DBS) samples. From October 2021 to August 2024, a total of 31,560 samples were tested in the Valencian Community (Spain) and 4 of them were positive for SMA, indicating an incidence of 1/7890. Genetic confirmation was performed using multiplex ligation-dependent probe amplification (MLPA) and AmplideX PCR/CE SMN1/2 Plus kit, in parallel obtaining concordant results in survival motor neuron 2 (SMN2) gene copy number. Within the first few weeks of their lives, two of the four patients detected by NBS showed signs of severe hypotonia, becoming ineligible for treatment. The other two patients were the first presymptomatic patients with two copies of SMN2 to receive treatment with Risdiplam in Spain. In order to treat positive cases in their early stages, we conclude that the official deployment of SMA newborn screening is necessary.
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These authors contributed equally to this work.
ISSN:2409-515X
2409-515X
DOI:10.3390/ijns11010007