ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers.
What it found
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The trial behind it
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Who cites it
77 citing papers in PubMed.
- Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.Nature medicine · 2022Trial
- Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.Neuromuscular disorders : NMD · 2019Trial
- The journey to establishing systems of care for all children, starting at birth: the Society for Pediatric Research's 2026 Mary Ellen Avery award.Pediatric research · 2026Article
- Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community.European journal of human genetics : EJHG · 2026Article
- Real-world treatment patterns and unmet needs in spinal muscular atrophy: a caregiver-centric survey study from China.BMC neurology · 2026Article
- The Path to Screening US Newborns for Severe Combined Immunodeficiency, 1968-2018: A Narrative Review of a Successful Biomedical Research and Public Health Partnership.Public health genomics · 2026Review
- Validation on the First-Tier Fully Automated High-ThroughputInternational journal of neonatal screening · 2025Article
- Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.European journal of pediatrics · 2025Article
- Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives.International journal of neonatal screening · 2025Article
- Universal newborn screening using genome sequencing: early experience from the GUARDIAN study.Pediatric research · 2025Review
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy.BMC biotechnology · 2025Article
- Article
- Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.International journal of neonatal screening · 2025Article
- Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.Neurology. Clinical practice · 2024Article
- Rare Variants of theGenes · 2024Article
- Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy.International journal of neonatal screening · 2024Review
- Review
- 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.Journal of neurology · 2024Article
- Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.Annals of clinical and translational neurology · 2024Article
17 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1.5%. We identified one newborn with a homozygous SMN1 deletion and two copies of SMN2, which strongly suggests the severe type 1 SMA phenotype. The infant was enrolled in the NURTURE clinical trial and was first treated with Spinraza at age 15 days. She is now age 12 months, meeting all developmental milestones, and free of any respiratory issues.ConclusionOur pilot study demonstrates the feasibility of population-based screening, the acceptance by families, and the benefit of newborn screening for SMA. We suggest that SMA be considered for addition to the national recommended uniform screening panel.
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