{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T08:02:46Z","timestamp":1784448166908,"version":"3.55.0"},"reference-count":34,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T00:00:00Z","timestamp":1745366400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005881","name":"Ministry of Human Capacities","doi-asserted-by":"publisher","award":["16090-6\/2022\/E\u00dcIG"],"award-info":[{"award-number":["16090-6\/2022\/E\u00dcIG"]}],"id":[{"id":"10.13039\/501100005881","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>The growing need to identify spinal muscular atrophy (SMA) patients as early as possible has shifted attention to newborn screening (NBS). The aim of the present study was to evaluate the possibility of including the SMA-NBS in the Hungarian screening panel. As the first step, a government-funded pilot program started in November 2022 and continued until the end of 2023. Evaluation of the first 14 months was followed by the decision to lengthen the program until the end of 2024, which was further supported by the needs of society. Screening tests were performed in both Hungarian national screening laboratories uniformly using the combined EONIS SCID-SMA real-time PCR assay kit by Revvity, for the newborns whose parents gave written consent for the analysis. Altogether, 155,985 newborns were screened during the 26 months of the program, which was 87% of all newborns involved in the national neonatal screens of the same period. All 19 newborns identified on the screen were diagnosed with SMA, confirmed by a multiplex ligation-dependent probe amplification assay (MLPA). The favorable results of the pilot study support the inclusion of the SMA in the national screening panel at the earliest possible date.<\/jats:p>","DOI":"10.3390\/ijns11020029","type":"journal-article","created":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T12:04:33Z","timestamp":1745409873000},"page":"29","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy"],"prefix":"10.3390","volume":"11","author":[{"given":"Krisztina","family":"Heged\u0171s","sequence":"first","affiliation":[{"name":"Paediatric Centre, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Istv\u00e1n","family":"L\u00e9n\u00e1rt","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Xue","sequence":"additional","affiliation":[{"name":"Paediatric Centre, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3591-6054","authenticated-orcid":false,"given":"P\u00e9ter B\u00e9la","family":"Monostori","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1kos","family":"Bar\u00e1th","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borb\u00e1la","family":"Mikos","sequence":"additional","affiliation":[{"name":"Bethesda Children\u2019s Hospital, 1146 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Szabolcs","family":"Udvari","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrienn","family":"G\u00e9resi","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attila J\u00f3zsef","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Paediatric Centre, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Csaba","family":"Bereczki","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1ria Judit","family":"Moln\u00e1r","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1040-145X","authenticated-orcid":false,"given":"Ildik\u00f3","family":"Szatm\u00e1ri","sequence":"additional","affiliation":[{"name":"Paediatric Centre, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,23]]},"reference":[{"key":"ref_1","first-page":"619","article-title":"Ten Great Public Health Achievements\u2014United States, 2001\u20132010","volume":"60","author":"Koppaka","year":"2011","journal-title":"MMWR Morb. 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