{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:12:57Z","timestamp":1792141977080,"version":"4.4.0"},"reference-count":23,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u201cPublication of this paper was supported by the University of Medicine and Pharmacy \u201cCarol Davila\u201d through the institutional program Publish not Perish\u201d","award":["not applicable"],"award-info":[{"award-number":["not applicable"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by bi-allelic deletions or pathogenic SMN1 variants. Early diagnosis through neonatal screening is essential for timely therapeutic intervention, significantly improving clinical outcomes. In August 2022, a pilot neonatal screening program for SMA was launched in Romania, aiming to assess feasibility and impact. Objectives are to present the preliminary results of the ongoing SMA neonatal screening pilot program in Romania, evaluating its effectiveness in early detection and referral for treatment. The program started in August 2022 with four maternity hospitals and has progressively expanded to 28 maternity hospitals nationwide. Dried blood spot samples from newborns were analyzed for SMN1 gene deletions using real-time PCR. Positive results were confirmed through genetic testing, and affected infants, along with their families, were referred for further medical evaluation and early therapeutic intervention. Approximately 60,000 newborns have been screened since the program\u2019s inception, and 12 newborns tested positive for SMN1 deletions, resulting in an estimated incidence rate of 1 in 5125 live births. All confirmed cases were promptly referred for specialized care, with early access to disease-modifying therapies. The program has faced challenges in logistics, parental awareness, and equitable access to treatment, but its expansion from 4 to 28 maternities demonstrates increasing feasibility, suitability, and acceptance. Conclusions: The Romanian pilot neonatal screening program for SMA has successfully identified affected infants early, proving its feasibility and clinical impact. The ongoing expansion suggests a strong foundation for a future national program, which could significantly improve early SMA diagnosis and patient outcomes in Romania.<\/jats:p>","DOI":"10.3390\/ijns12010006","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T16:12:37Z","timestamp":1770048757000},"page":"6","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program"],"prefix":"10.3390","volume":"12","author":[{"given":"Madalina Cristina","family":"Leanca","sequence":"first","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"Genetics Laboratory, National University Center for Children Neurorehabilitation \u201cRobanescu-Padure\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6346-8941","authenticated-orcid":false,"given":"Gelu","family":"Onose","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"Teaching Emergency Hospital \u201cBagdasar-Arseni\u201d, 12 Berceni Avenue, 041915 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6028-2407","authenticated-orcid":false,"given":"Georgiana","family":"Nicolae","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"Genetics Laboratory, National University Center for Children Neurorehabilitation \u201cRobanescu-Padure\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7300-528X","authenticated-orcid":false,"given":"Elena","family":"Neagu","sequence":"additional","affiliation":[{"name":"Genetics Laboratory, National University Center for Children Neurorehabilitation \u201cRobanescu-Padure\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Vasile","sequence":"additional","affiliation":[{"name":"Genetics Laboratory, National University Center for Children Neurorehabilitation \u201cRobanescu-Padure\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ecaterina","family":"Bercu","sequence":"additional","affiliation":[{"name":"Genetics Laboratory, National University Center for Children Neurorehabilitation \u201cRobanescu-Padure\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oana Mirabela","family":"Balanescu","sequence":"additional","affiliation":[{"name":"Genetics Laboratory, National University Center for Children Neurorehabilitation \u201cRobanescu-Padure\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2183-0727","authenticated-orcid":false,"given":"Andrei","family":"Capitanescu","sequence":"additional","affiliation":[{"name":"Children\u2019s Emergency Clinical Hospital \u201cMaria Sklodowska Curie\u201d, 20 Constantin Brancoveanu, 075534 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1084-7710","authenticated-orcid":false,"given":"Constantin","family":"Munteanu","sequence":"additional","affiliation":[{"name":"Teaching Emergency Hospital \u201cBagdasar-Arseni\u201d, 12 Berceni Avenue, 041915 Bucharest, Romania"},{"name":"Department of Biomedical Sciences, Faculty of Medical Bioengineering, University of Medicine and Pharmacy \u201cGrigore T. Popa\u201d, 700454 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Popescu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"Teaching Emergency Hospital \u201cBagdasar-Arseni\u201d, 12 Berceni Avenue, 041915 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0532-2021","authenticated-orcid":false,"given":"Andrada","family":"Mirea","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"Genetics Laboratory, National University Center for Children Neurorehabilitation \u201cRobanescu-Padure\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1038\/s41582-020-00413-4","article-title":"Spinal Muscular Atrophy\u2014Insights and Challenges in the Treatment Era","volume":"16","author":"Mercuri","year":"2020","journal-title":"Nat. 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