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A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of SMN1 using dried blood spot (DBS) samples. From October 2021 to August 2024, a total of 31,560 samples were tested in the Valencian Community (Spain) and 4 of them were positive for SMA, indicating an incidence of 1\/7890. Genetic confirmation was performed using multiplex ligation-dependent probe amplification (MLPA) and AmplideX PCR\/CE SMN1\/2 Plus kit, in parallel obtaining concordant results in survival motor neuron 2 (SMN2) gene copy number. Within the first few weeks of their lives, two of the four patients detected by NBS showed signs of severe hypotonia, becoming ineligible for treatment. The other two patients were the first presymptomatic patients with two copies of SMN2 to receive treatment with Risdiplam in Spain. In order to treat positive cases in their early stages, we conclude that the official deployment of SMA newborn screening is necessary.<\/jats:p>","DOI":"10.3390\/ijns11010007","type":"journal-article","created":{"date-parts":[[2025,1,14]],"date-time":"2025-01-14T11:28:31Z","timestamp":1736854111000},"page":"7","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community"],"prefix":"10.3390","volume":"11","author":[{"given":"Alba","family":"Berzal-Serrano","sequence":"first","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain"},{"name":"Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"Garc\u00eda-Boh\u00f3rquez","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain"},{"name":"Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, 46026 Valencia, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Aller","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain"},{"name":"Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, 46026 Valencia, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, 28029 Madrid, Spain"},{"name":"Department of Genetics, La Fe University and Polytechnic Hospital, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0973-9146","authenticated-orcid":false,"given":"Teresa","family":"Jaijo","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain"},{"name":"Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, 46026 Valencia, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, 28029 Madrid, Spain"},{"name":"Department of Genetics, La Fe University and Polytechnic Hospital, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3864-7374","authenticated-orcid":false,"given":"Inmaculada","family":"Pitarch-Castellano","sequence":"additional","affiliation":[{"name":"Neuropediatric Unit, Department of Paediatrics, La Fe University and Polytechnic Hospital, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5784-7526","authenticated-orcid":false,"given":"Dolores","family":"Rausell","sequence":"additional","affiliation":[{"name":"Clinical Analysis Service, Metabolic Disorders Laboratory, La Fe University and Polytechnic Hospital, 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2113-0600","authenticated-orcid":false,"given":"Gema","family":"Garc\u00eda-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain"},{"name":"Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, 46026 Valencia, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-9129","authenticated-orcid":false,"given":"Jos\u00e9 M.","family":"Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain"},{"name":"Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, 46026 Valencia, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,14]]},"reference":[{"key":"ref_1","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. 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