{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T20:44:10Z","timestamp":1785789850321,"version":"3.56.0"},"reference-count":16,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T00:00:00Z","timestamp":1624492800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000016","name":"U.S. Department of Health and Human Services","doi-asserted-by":"publisher","award":["U22MC24078"],"award-info":[{"award-number":["U22MC24078"]}],"id":[{"id":"10.13039\/100000016","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state NBS programs to screen. ACHDNC updated the Recommended Uniform Screening Panel to include Spinal Muscular Atrophy (SMA) in July 2018. As of June 2021, 34 state NBS programs had fully implemented SMA newborn screening, and at least 8 programs were pursuing implementation. This article will review current SMA screening processes, considerations, challenges, and status.<\/jats:p>","DOI":"10.3390\/ijns7030033","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T23:22:14Z","timestamp":1624576934000},"page":"33","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018\u20132021"],"prefix":"10.3390","volume":"7","author":[{"given":"Kshea","family":"Hale","sequence":"first","affiliation":[{"name":"Association of Public Health Laboratories, Silver Spring, MD 20910, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelili","family":"Ojodu","sequence":"additional","affiliation":[{"name":"Association of Public Health Laboratories, Silver Spring, MD 20910, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sikha","family":"Singh","sequence":"additional","affiliation":[{"name":"Association of Public Health Laboratories, Silver Spring, MD 20910, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,24]]},"reference":[{"key":"ref_1","unstructured":"Health Resources and Services Administration (2020, December 17). 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Available online: https:\/\/www.curesma.org\/genetics\/."},{"key":"ref_8","unstructured":"National Center for Biotechnology Information (2021, January 05). \u201cPubChem Gene Summary for NCBI Gene 6606\u201d PubChem, Available online: https:\/\/pubchem.ncbi.nlm.nih.gov\/gene\/SMN1\/human."},{"key":"ref_9","unstructured":"National Institutes of Health (2021, May 10). National Institute of Neurological Disorders and Stroke Spinal Muscular Atrophy Fact Sheet\u201d, NINDS, Publication Date May 2019, NIH Publication No. 19-NS-5597, Available online: https:\/\/www.ninds.nih.gov\/Disorders\/Patient-Caregiver-Education\/Fact-Sheets\/Spinal-Muscular-Atrophy-Fact-Sheet."},{"key":"ref_10","unstructured":"National Organization for Rare Disorders (2021, January 06). Rare Disease Database: Spinal Muscular Atrophy. Available online: https:\/\/rarediseases.org\/rare-diseases\/spinal-muscular-atrophy\/."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Hale, J., Darras, B., Swoboda, K., Estrella, E., Chen, J., Abbott, M.-A., Hay, B., Kumar, B., Counihan, A., and Gerstel-Thompson, J. (2021). Massachusetts\u2019 Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020026"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.2147\/TCRM.S172291","article-title":"Clinical Evidence Supporting Early Treatment of Patients with Spinal Muscular Atrophy: Current Perspectives","volume":"ume 15","author":"Dangouloff","year":"2019","journal-title":"Ther. Clin. Risk Manag."},{"key":"ref_13","unstructured":"Association of Public Health Laboratories (2021, April 30). NewSTEPs New Disorder Readiness Scale. Available online: https:\/\/www.newsteps.org\/sites\/default\/files\/newdisorderreadinessstool_May2021_.pdf."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/mrdd.20122","article-title":"Pilot programs in newborn screening","volume":"12","author":"Pass","year":"2006","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"ref_15","unstructured":"Kemper, A.R., and Lam, K.K. (2021, June 08). Newborn Screening for Spinal Muscular Atrophy Phase I: Update of the Evidence Review, Available online: https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/meetings\/20170803\/kemper.pdf."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Hale, K., Kellar-Guenther, Y., McKasson, S., Singh, S., and Ojodu, J. (2020). Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020048"}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/7\/3\/33\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:22:46Z","timestamp":1760163766000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/7\/3\/33"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,24]]},"references-count":16,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["ijns7030033"],"URL":"https:\/\/doi.org\/10.3390\/ijns7030033","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,24]]}}}