{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T15:02:36Z","timestamp":1785942156120,"version":"3.56.0"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Public Health"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Spinal muscular atrophy (SMA) is a severe autosomal recessive neuromuscular disease and a major cause of infant mortality. T\u00fcrkiye implemented a nationwide premarital SMA carrier screening program in 2021 to reduce disease incidence through early detection and genetic counseling.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study evaluates the application of the program in a northern province of T\u00fcrkiye, covering 19,988 individuals screened between December 27, 2021, and May 31, 2024.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The carrier prevalence was 2.26% (1:44), and the screening uptake rate was 87.9%. Of 441 screened partners of identified carriers, 13 were also found to be carriers. Seven couples were confirmed as dual carriers and were referred for preimplantation genetic diagnosis (PGD), effectively preventing the birth of affected children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The findings demonstrate the value of premarital screening in populations with high consanguinity rates. The study supports the integration of accessible, socially informed screening practices and highlights the need for further data collection, expanded carrier panels, and enhanced public awareness in T\u00fcrkiye.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fpubh.2025.1714795","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T06:42:23Z","timestamp":1768977743000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["From policy to practice: premarital spinal muscular atrophy screening as a public health initiative in northern T\u00fcrkiye"],"prefix":"10.3389","volume":"13","author":[{"given":"Feyza Nur","family":"Topcu Yenercag","sequence":"first","affiliation":[{"name":"Department of Public Health, Faculty of Medicine, Samsun University","place":["Samsun, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sule","family":"Ozturk","sequence":"additional","affiliation":[{"name":"Department of Public Health, Faculty of Medicine, Samsun University","place":["Samsun, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunay","family":"Kaya Tarhan","sequence":"additional","affiliation":[{"name":"Samsun Provincial Health Directorate","place":["Samsun, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,21]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1016\/j.neuron.2005.12.001","article-title":"Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease","volume":"48","author":"Monani","year":"2005","journal-title":"Neuron"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1038\/sj.ejhg.5201288","article-title":"New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations","volume":"12","author":"Ogino","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"ref5","volume-title":"Premarital spinal muscular atrophy (SMA) carrier screening program","year":"2025"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1001\/archneurol.2011.74","article-title":"Spinal muscular atrophy: a timely review","volume":"68","author":"Kolb","year":"2011","journal-title":"Arch Neurol"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","article-title":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study","volume":"388","author":"Finkel","year":"2016","journal-title":"Lancet"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/B978-0-444-64076-5.00038-7","article-title":"Spinal muscular atrophy","volume":"148","author":"Arnold","year":"2018","journal-title":"Handb Clin Neurol"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"104441-606","DOI":"10.1016\/j.nmd.2024.07.615","article-title":"Newborn spinal muscular atrophy screening: 2-year results of multi-center experience in Turkey","volume":"43","author":"Unver","year":"2024","journal-title":"Neuromuscul Disord"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"38","DOI":"10.3390\/ijns10020038","article-title":"Current status of newborn bloodspot screening worldwide 2024: a comprehensive review of recent activities (2020-2023)","volume":"10","author":"Therrell","year":"2024","journal-title":"Int J Neonatal Screen"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1080\/14737175.2023.2252179","article-title":"Newborn screening for spinal muscular atrophy - what have we learned?","volume":"23","author":"De Siqueira Carvalho","year":"2023","journal-title":"Expert Rev Neurother"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"117793","DOI":"10.1016\/j.cca.2024.117793","article-title":"Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort","volume":"555","author":"G\u00fcl\u015fen","year":"2024","journal-title":"Clin Chim Acta"},{"key":"ref13","volume-title":"Spinal muscular atrophy. GeneReviews\u00ae","author":"Prior","year":"2020"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","author":"Prior","year":"2010","journal-title":"Am J Med Genet A"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1002\/pd.4459","article-title":"SMA carrier testing: a meta-analysis of differences in test performance by ethnic group","volume":"34","author":"MacDonald","year":"2014","journal-title":"Prenat Diagn"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1111\/ajo.13206","article-title":"Socioeconomic status and uptake of reproductive carrier screening in Australia","volume":"60","author":"Robson","year":"2020","journal-title":"Aust N Z J Obstet Gynaecol"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"1681513","DOI":"10.3389\/fpubh.2025.1681513","article-title":"Profiling safety behavior in 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