{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T04:44:25Z","timestamp":1777005865229,"version":"3.51.4"},"reference-count":16,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,5,23]],"date-time":"2021-05-23T00:00:00Z","timestamp":1621728000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["1 NU88EH001323-01-00"],"award-info":[{"award-number":["1 NU88EH001323-01-00"]}],"id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time\u2122 quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.<\/jats:p>","DOI":"10.3390\/ijns7020026","type":"journal-article","created":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T02:32:43Z","timestamp":1621823563000},"page":"26","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Massachusetts\u2019 Findings from Statewide Newborn Screening for Spinal Muscular Atrophy"],"prefix":"10.3390","volume":"7","author":[{"given":"Jaime E.","family":"Hale","sequence":"first","affiliation":[{"name":"New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Basil T.","family":"Darras","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA 02115, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4593-6342","authenticated-orcid":false,"given":"Kathryn J.","family":"Swoboda","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elicia","family":"Estrella","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA 02115, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin Yun Helen","family":"Chen","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary-Alice","family":"Abbott","sequence":"additional","affiliation":[{"name":"Baystate Medical Center, Division of Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, MA 01199, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly N.","family":"Hay","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binod","family":"Kumar","sequence":"additional","affiliation":[{"name":"New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA"},{"name":"Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Counihan","sequence":"additional","affiliation":[{"name":"New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacalyn","family":"Gerstel-Thompson","sequence":"additional","affiliation":[{"name":"New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inderneel","family":"Sahai","sequence":"additional","affiliation":[{"name":"New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA"},{"name":"Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger B.","family":"Eaton","sequence":"additional","affiliation":[{"name":"New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA"},{"name":"Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne Marie","family":"Comeau","sequence":"additional","affiliation":[{"name":"New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA"},{"name":"Division of Genetics, Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpeds.2017.06.042","article-title":"Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening","volume":"190","author":"Chien","year":"2017","journal-title":"J. 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Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy\u2014A literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Carrier Screening for Genetic Conditions (2017). Committee Opinion No. 691. American College of Obstetricians and Gynecologists. Obstet. 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