ArticleDevelopmental medicine and child neurology2022
Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
Article in Developmental medicine and child neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 67 citations in OpenAlex.
- Newborn screening for spinal muscular atrophy: time is motor neuron.Nature reviews. Neurology · 2026Article
- Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations.Journal of neuromuscular diseases · 2026Review
- The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy.Annals of neurology · 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
- Article
- Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy.International journal of neonatal screening · 2026Article
- SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.American journal of human genetics · 2026Article
- An evaluation of U.S. federal investments in newborn screening: successes, gaps, and future directions.Frontiers in public health · 2026Article
- The Integrated Approach in Patients with Spinal Muscular Atrophy in the Era of Early Diagnosis, Etiopathogenic Therapies and Multidisciplinary Standards of Care and Rehabilitation Interventions Leads to New Phenotypes.Life (Basel, Switzerland) · 2025Article
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals.Neurology and therapy · 2025Article
- An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.International journal of neonatal screening · 2025Article
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.International journal of neonatal screening · 2025Article
- A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.The Lancet regional health. Western Pacific · 2024Article
- Newborn screening programs for spinal muscular atrophy worldwide in 2023.Journal of neuromuscular diseases · 2024Article
- Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy.International journal of neonatal screening · 2024Review
- Review
- Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.Neurology and therapy · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective.Molecular and cellular pediatrics · 2023Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimThis study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).
methodWe used an implementation-effectiveness study design and continuous interdisciplinary review to measure SMA NBS test protocol performance, identify and overcome laboratory and clinical barriers to implementation, and describe progress during the 2-year pilot study.
resultsThe NBS programme screened 252 081 newborn infants from 1st August 2018 to 31st January 2021. Using an NBS pilot test protocol, 21 infants were diagnostically confirmed with SMA. The NBS pilot test protocol had a sensitivity of 100%, specificity greater than 99.9%, false-positive rate less than 0.001%, a false-negative rate of 0%, and positive predictive value of 95.5%. A severe phenotype was predicted on the basis of two copies of SMN2 in 57.2% of newborn infants screening positive for SMA. Clinical signs consistent with SMA were evident in 6 out of 21 screen-positive newborn infants within the first 4 weeks of life. A multidisciplinary team establishing strong partnerships across clinical and laboratory staff was key to implementation.
interpretationThis pilot programme suggests that NBS is essential for early identification of newborn infants at risk of SMA and can be effectively translated into clinical practice.
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