https://m2.mtmt.hu/ hun 2026-09-23 06:32 JournalArticle 36105714 VALIDATED true 0 false 2026-09-14T16:18:47.480+0000 2026-09-07T07:39:54.505+0000 2025-04-24T07:59:50.660+0000 true 10045296 Cseh Éva /api/admin/10045296 Admin true 10045296 2026-09-07T07:39:54.720+0000 2026-09-07T07:39:54.720+0000 2025-07-29T13:54:38.486+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Hegedűs, Krisztina Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy true true /api/journal/20066789 REVIEWED true false false 20066789 true 2409-515X Journal FOREIGN 11 2 29 29 12 2025 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. 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(KRE / GESZK / ETI); Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I); Gyermekgyógyászati Klinika (SE / AOK / K); Gyermekgyógyászati Klinika és Gyermek Egészségü... (SZTE / SZAOK); Magyarországi Református Egyház Bethesda Gyerme... 11 42 5 12 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 126246504 /api/authorship/126246504 1 0.083 true false false Author 10040519 /api/author/10040519 Hegedűs Krisztina true 10040519 true Hegedűs Krisztina true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 126246505 /api/authorship/126246505 2 0.083 false false false Author 10078973 /api/author/10078973 Lénárt István true true Lénárt István true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 126246506 /api/authorship/126246506 3 0.083 false false false Author 10090624 /api/author/10090624 Xue Andrea true true Xue Andrea true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 126246507 /api/authorship/126246507 4 0.083 false false false Author 10028272 /api/author/10028272 Monostori Péter true 10028272 true Monostori Péter Béla true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 126246508 /api/authorship/126246508 5 0.083 false false false Author 10075592 /api/author/10075592 Baráth Ákos true true Baráth Ákos true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 126246509 /api/authorship/126246509 6 0.083 false false false Author 10086865 /api/author/10086865 Mikos Borbála true true Mikos Borbála true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 126246510 /api/authorship/126246510 7 0.083 false false false Author 10011311 /api/author/10011311 Udvari Szabolcs true 10011311 true Udvari Szabolcs true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 126246511 /api/authorship/126246511 8 0.083333336 false false false Géresi Adrienn true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true 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false true PublicationIdentifier 29272381 /api/publicationidentifier/29272381 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3390/ijns11020029 https://doi.org/10.3390/ijns11020029 false true PublicationIdentifier 29443264 /api/publicationidentifier/29443264 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001516039300001 https://www.webofscience.com/wos/woscc/full-record/001516039300001 true true PublicationIdentifier 29564170 /api/publicationidentifier/29564170 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 105009314446 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PublicationSourceType 10007 /api/publicationsourcetype/10007 true true true SZTE Publicatio SZTE Publicatio http://publicatio.bibl.u-szeged.hu/@@@ true true 90 true GREEN true IDENTICAL 36908 http://publicatio.bibl.u-szeged.hu/36908 false true SjrRating 11608716 /api/sjrrating/11608716 21 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2729 /api/classificationexternal/2729 true 2729 true D1 DIRECT true true /api/publication/36105714 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10040519"><a href="/gui2/?type=authors&mode=browse&sel=10040519" target="_blank">Hegedűs Krisztina (<span class="authorship-author-name">Hegedűs Krisztina</span> <span class="authorAux-mtmt"> sejtbiológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Gyermekgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10078973"><a href="/gui2/?type=authors&mode=browse&sel=10078973" target="_blank">Lénárt István (<span class="authorship-author-name">Lénárt István</span> <span class="authorAux-mtmt"> laboratóriumi diagnosztika</span>) </a> </span> <span class="author-affil"><span title="Szegedi Tudományegyetem">SZTE</span>/<span title="Szent-Györgyi Albert Orvostudományi Kar">SZAOK</span>/Gyermekgyógyászati Klinika és Gyermek Egészségügyi Központ</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10090624"><a href="/gui2/?type=authors&mode=browse&sel=10090624" target="_blank">Xue Andrea (<span class="authorship-author-name">Xue Andrea</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Gyermekgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10028272"><a href="/gui2/?type=authors&mode=browse&sel=10028272" target="_blank">Monostori Péter Béla (<span class="authorship-author-name">Monostori Péter</span> <span class="authorAux-mtmt"> laboratóriumi diagnosztika, tömegspektrometria</span>) </a> </span> <span class="author-affil"><span title="Szegedi Tudományegyetem">SZTE</span>/<span title="Szent-Györgyi Albert Orvostudományi Kar">SZAOK</span>/Gyermekgyógyászati Klinika és Gyermek Egészségügyi Központ</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10075592"><a href="/gui2/?type=authors&mode=browse&sel=10075592" target="_blank">Baráth Ákos (<span class="authorship-author-name">Baráth Ákos</span> <span class="authorAux-mtmt"> tömegspektrometria</span>) </a> </span> <span class="author-affil"><span title="Szegedi Tudományegyetem">SZTE</span>/<span title="Szent-Györgyi Albert Orvostudományi Kar">SZAOK</span>/Gyermekgyógyászati Klinika és Gyermek Egészségügyi Központ</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10086865"><a href="/gui2/?type=authors&mode=browse&sel=10086865" target="_blank">Mikos Borbála (<span class="authorship-author-name">Mikos Borbála</span> <span class="authorAux-mtmt"> Intenzív terápia</span>) </a> </span> <span class="author-affil"><span title="Károli Gáspár Református Egyetem">KRE</span>/<span title="Gazdaságtudományi, Egészségtudományi és szociális Kar">GESZK</span>/<span title="Egészségtudományi Intézet">ETI</span>/Egészségügyi Alaptudományi és Diagnosztikai Tanszék; Magyarországi Református Egyház Bethesda Gyermekkórháza</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10011311"><a href="/gui2/?type=authors&mode=browse&sel=10011311" target="_blank">Udvari Szabolcs (<span class="authorship-author-name">Udvari Szabolcs</span> <span class="authorAux-mtmt"> Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Géresi Adrienn </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10015517"><a href="/gui2/?type=authors&mode=browse&sel=10015517" target="_blank">Szabó Attila József (<span class="authorship-author-name">Szabó Attila</span> <span class="authorAux-mtmt"> Gyermekgyógyászat, nephrologia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Gyermekgyógyászati Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10029804"><a href="/gui2/?type=authors&mode=browse&sel=10029804" target="_blank">Bereczki Csaba (<span class="authorship-author-name">Bereczki Csaba</span> <span class="authorAux-mtmt"> gyermekgyógyászat, nephrológia, hypertonológia</span>) </a> </span> <span class="author-affil"><span title="Szegedi Tudományegyetem">SZTE</span>/<span title="Szent-Györgyi Albert Orvostudományi Kar">SZAOK</span>/Gyermekgyógyászati Klinika és Gyermek Egészségügyi Központ</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnár Mária Judit (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10011494"><a href="/gui2/?type=authors&mode=browse&sel=10011494" target="_blank">Szatmári Ildikó ✉ (<span class="authorship-author-name">Szatmári Ildikó</span> <span class="authorAux-mtmt"> Örökletes anyagcsere betegségek, újszülöttkori ...</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Gyermekgyógyászati Klinika</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;36105714" target="_blank">Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy</a></div> <div> <span class="journal-title">INTERNATIONAL JOURNAL OF NEONATAL SCREENING</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2409-515X">2409-515X</a>)</span>: <span class="journal-volume">11</span> <span class="journal-issue">2</span> <span class="page"> Paper 29. 12 p. </span> <span class="year">(2025)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/ijns11020029" target="_blank" href="https://doi.org/10.3390/ijns11020029"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001516039300001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001516039300001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="105009314446" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-105009314446"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="40407512" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=40407512&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:black" title="PMC12101315" target="_blank" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101315"> Pubmed Central </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="36908" target="_blank" href="http://publicatio.bibl.u-szeged.hu/36908"> SZTE Publicatio </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Obstetrics and Gynecology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Pediatrics, Perinatology and Child Health&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Immunology and Microbiology (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 5</span> | Független: 4 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 3 | Scopus jelölt:&nbsp;4 | WoS/Scopus jelölt:&nbsp;4 | DOI jelölt:&nbsp;5 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;36105714&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 36105714</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (16090-6/2022/EÜIG) </div> <div class="lastModified">Utolsó módosítás: 2026.09.07. 09:39 Balázs András (MTMT Központ_, admin) </div> </div></div>