Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Sep 1;178(9):946-949.
doi: 10.1001/jamapediatrics.2024.1911.

Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US

Affiliations

Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US

Lisa Belter et al. JAMA Pediatr. .
No abstract available

Plain language summary

This cross-sectional study describes the collection and use of state-provided data on newborn screening for spinal muscular atrophy.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest Disclosures: Ms Belter reported receiving salary support from Cure SMA Real World Evidence Collaboration during the conduct of the study. Dr Taylor reported receiving salary support from the Eunice Kennedy Shriver National Institute of Child Health and Human Development during the conduct of the study. Mrs Jorgensen reported receiving salary support from Cure SMA Real World Evidence Collaboration during the conduct of the study. Ms Whitmire reported receiving salary support from Cure SMA Real World Evidence Collaboration during the conduct of the study. Ms. Tingey reported receiving salary support from Cure SMA Real World Evidence Collaboration during the conduct of the study. Dr Schroth reported receiving salary support from Cure SMA Real World Evidence Collaboration during the conduct of the study. No other disclosures were reported.

Figures

Figure.
Figure.. Data Collection for Estimating Birth Prevalence of Spinal Muscular Atrophy (SMA)
NBS indicates newborn screening.

References

    1. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157-167. doi: 10.1002/mus.24497 - DOI - PMC - PubMed
    1. Cure SMA. Newborn screening for SMA. 2022. Accessed September 9, 2023. https://www.curesma.org/newborn-screening-for-sma/
    1. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27-32. doi: 10.1038/ejhg.2011.134 - DOI - PMC - PubMed
    1. Verhaart IEC, Robertson A, Leary R, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017;264(7):1465-1473. doi: 10.1007/s00415-017-8549-1 - DOI - PMC - PubMed
    1. Prior TW, Nagan N, Sugarman EA, Batish SD, Braastad C. Technical standards and guidelines for spinal muscular atrophy testing. Genet Med. 2011;13(7):686-694. doi: 10.1097/GIM.0b013e318220d523 - DOI - PubMed