Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy

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dc.contributor.authorHegedűs Krisztina
dc.contributor.authorLénárt István
dc.contributor.authorXue Andrea
dc.contributor.authorMonostori Péter Béla
dc.contributor.authorBaráth Ákos
dc.contributor.authorMikos Borbála
dc.contributor.authorUdvari Szabolcs
dc.contributor.authorGéresi Adrienn
dc.contributor.authorSzabó Attila József
dc.contributor.authorBereczki Csaba
dc.contributor.authorMolnár Mária Judit
dc.contributor.authorSzatmári Ildikó
dc.contributor.departmentEgészségtudományi Intézet
dc.contributor.departmentAlaptudományi és Diagnosztikai Tanszék
dc.contributor.institutionKRE - Gazdaságtudományi, Egészségtudományi és Szociális Kar
dc.date.accessioned2026-04-27T14:23:00Z
dc.date.available2026-04-27T14:23:00Z
dc.date.issued2025
dc.description.abstractThe 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.
dc.formatpdf
dc.identifier.citationHegedűs Krisztina: Results of the Hungarian Newborn Screening, Pilot Program for Spinal Muscular Atrophy. International Journal of Neonatal Screening 11. évfolyam, 29. szám, 2025. 1-12 p.
dc.identifier.doi https://doi.org/10.3390/ijns11020029
dc.identifier.issn2409-515X
dc.identifier.issue29. szám
dc.identifier.jtitleInternational Journal of Neonatal Screening
dc.identifier.mtmt36105714
dc.identifier.uri https://hdl.handle.net/20.500.14834/14447
dc.identifier.volume11. évfolyam
dc.languageangol
dc.language.isoen
dc.rightsszabadon hozzáférhető
dc.subjectspinal muscular atrophy (SMA) ; pilot program ; Hungary ; newborn screening (NBS)
dc.subject.mabOrvos- és egészségtudományok::Klinikai orvostudományok
dc.subject.mabOrvos- és egészségtudományok::Egészségtudományok
dc.titleResults of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy
dc.typeArticle
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