{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T00:40:09Z","timestamp":1748479209305,"version":"3.41.0"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1016\/j.cca.2025.120379","type":"journal-article","created":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T15:48:30Z","timestamp":1747928910000},"page":"120379","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Carrier screening for survival motor neuron variants in 7709 pregnant women from Foshan, Guangdong Province"],"prefix":"10.1016","volume":"575","author":[{"given":"Xiao-wen","family":"Yuan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang-rong","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhan-tao","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"9630","key":"10.1016\/j.cca.2025.120379_b0005","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.cca.2025.120379_b0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejpn.2022.04.006","article-title":"Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: a systematic review of real-world study data","volume":"39","author":"Erd\u0151s","year":"2022","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"1","key":"10.1016\/j.cca.2025.120379_b0015","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy \u2013 A literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.cca.2025.120379_b0020","doi-asserted-by":"crossref","first-page":"e2359","DOI":"10.1002\/mgg3.2359","article-title":"Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women","volume":"12","author":"Zhang","year":"2024","journal-title":"Mol. Genet. Genomic Med."},{"key":"10.1016\/j.cca.2025.120379_b0025","doi-asserted-by":"crossref","first-page":"1","DOI":"10.14715\/cmb\/2023.69.10.1","article-title":"Differential effect of fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth: dual signaling of fas in motoneurons","volume":"69","author":"Benlefki","year":"2023","journal-title":"Cell. Mol. Biol. (Noisy-le-Grand)"},{"key":"10.1016\/j.cca.2025.120379_b0030","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/jgc4.1549","article-title":"Evolving approaches to prenatal genetic counseling for spinal muscular atrophy in the new treatment era","volume":"31","author":"Zettler","year":"2023","journal-title":"J. Genet. Couns."},{"key":"10.1016\/j.cca.2025.120379_b0035","doi-asserted-by":"crossref","first-page":"33","DOI":"10.3233\/JND-190399","article-title":"Spinal muscular atrophy (SMA) subtype concordance in siblings: findings from the cure SMA cohort","volume":"7","author":"Jones","year":"2020","journal-title":"J Neuromusc Dis."},{"key":"10.1016\/j.cca.2025.120379_b0040","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1038\/s41436-020-0754-0","article-title":"Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data","volume":"22","author":"Chen","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.cca.2025.120379_b0045","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.cca.2025.120379_b0050","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. Rev. Neurol."},{"issue":"3","key":"10.1016\/j.cca.2025.120379_b0055","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul. Disord."},{"issue":"11","key":"10.1016\/j.cca.2025.120379_b0060","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1097\/GIM.0b013e318188d069","article-title":"Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy","volume":"10","author":"Prior","year":"2008","journal-title":"Genet. Med."},{"issue":"5","key":"10.1016\/j.cca.2025.120379_b0065","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1097\/AOG.0b013e3181a6d03a","article-title":"Spinal Muscular Atrophy","volume":"113","author":"ACOG Committee Opinion No. 432","year":"2009","journal-title":"Obstet. Gynecol."},{"issue":"40","key":"10.1016\/j.cca.2025.120379_b0070","first-page":"3130","article-title":"Expert consensus on the genetic diagnosis of spinal muscular atrophy","volume":"100","author":"Song","year":"2020","journal-title":"Chin. Med. J. (Engl.)"},{"issue":"1","key":"10.1016\/j.cca.2025.120379_b0075","doi-asserted-by":"crossref","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 >72400 specimens","volume":"20","author":"Sugarmen","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.cca.2025.120379_b0080","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2024.1357476","article-title":"Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women","volume":"15","author":"Zhou","year":"2024","journal-title":"Front. Neurol."},{"issue":"10","key":"10.1016\/j.cca.2025.120379_b0085","article-title":"Carrier screening and prenatal diagnosis of spinal muscular atrophy in 3302 pregnant women in Xinjiang region","volume":"53","author":"Zhang","year":"2024","journal-title":"Chongqing Med. J."},{"issue":"2","key":"10.1016\/j.cca.2025.120379_b0090","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1007\/s10528-024-10775-9","article-title":"Screening of spinal muscular atrophy carriers and prenatal diagnosis in pregnant women in Yancheng, China","volume":"63","author":"Sun","year":"2025","journal-title":"Biochem. Genet."},{"issue":"1","key":"10.1016\/j.cca.2025.120379_b0095","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s10815-023-02991-w","article-title":"Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China","volume":"41","author":"Sun","year":"2024","journal-title":"J. Assist. Reprod. Genet."},{"issue":"7","key":"10.1016\/j.cca.2025.120379_b0100","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","volume":"152A","author":"Prior","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.cca.2025.120379_b0105","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1097\/GIM.0b013e3182017c05","article-title":"Large-scale population screening for spinal muscular atrophy: clinical implications","volume":"13","author":"Ben-Shachar","year":"2011","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.cca.2025.120379_b0110","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.70077","article-title":"Carrier screening and prenatal diagnosis for spinal muscular atrophy in Ningde City, Fujian Province","volume":"13","author":"Lu","year":"2025","journal-title":"Mol. Genet. Genomic Med."},{"issue":"1","key":"10.1016\/j.cca.2025.120379_b0115","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/s41598-021-04325-1","article-title":"Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene","volume":"12","author":"Zhao","year":"2022","journal-title":"Sci. Rep."},{"key":"10.1016\/j.cca.2025.120379_b0120","first-page":"39","article-title":"Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province","volume":"16","author":"Huang","year":"2023","journal-title":"BMC Med. Genet."},{"issue":"6","key":"10.1016\/j.cca.2025.120379_b0125","first-page":"8","article-title":"Carrier screening and prenatal diagnosis of spinal muscular atrophy","volume":"31","author":"Li","year":"2024","journal-title":"J. Rare Uncomm. Dis."},{"issue":"6","key":"10.1016\/j.cca.2025.120379_b0130","first-page":"776","article-title":"Screening and analysis of SMN1 mutation carriers of spinal muscular atrophy in childbearing age women in Maoming region","volume":"23","author":"Li","year":"2023","journal-title":"J. Trop. Med."},{"issue":"2","key":"10.1016\/j.cca.2025.120379_b0135","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.70064","article-title":"Saliva sample-based non-invasive carrier screening for spinal muscular atrophy, hereditary hearing loss, and thalassemia in 13,926 women of reproductive age from South Zhejiang","volume":"13","author":"Xu","year":"2025","journal-title":"Mol. Genet. Genomic Med."},{"key":"10.1016\/j.cca.2025.120379_b0140","first-page":"467","article-title":"Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi","volume":"35","author":"Tan","year":"2018","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.cca.2025.120379_b0145","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s13353-022-00737-5","article-title":"Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy polish individuals","volume":"64","author":"Sypniewski","year":"2023","journal-title":"J. Appl. Genet."},{"key":"10.1016\/j.cca.2025.120379_b0150","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1007\/s10072-019-03885-5","article-title":"Carrier frequency of spinal muscular atrophy in Thailand","volume":"40","author":"Dejsuphong","year":"2019","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.cca.2025.120379_b0155","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1002\/ajmg.a.61918","article-title":"Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: the need for population based screening program","volume":"185","author":"Nilay","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.cca.2025.120379_b0160","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2009.066969","article-title":"Differences in SMN1 allele frequencies among ethnic groups within North America","volume":"46","author":"Hendrickson","year":"2009","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.cca.2025.120379_b0165","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.jmoldx.2020.01.015","article-title":"Survival motor neuron gene copy number analysis by exome sequencing: assisting spinal muscular atrophy diagnosis and carrier screening","volume":"22","author":"Liu","year":"2020","journal-title":"J. Mol. Diagn."},{"key":"10.1016\/j.cca.2025.120379_b0170","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1007\/s00415-017-8549-1","article-title":"A multi-source approach to determine SMA incidence and research ready population","volume":"264","author":"Verhaart","year":"2017","journal-title":"J. Neurol."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989812500258X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989812500258X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T00:17:08Z","timestamp":1748477828000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000989812500258X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":34,"alternative-id":["S000989812500258X"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2025.120379","relation":{},"ISSN":["0009-8981"],"issn-type":[{"type":"print","value":"0009-8981"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Carrier screening for survival motor neuron variants in 7709 pregnant women from Foshan, Guangdong Province","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2025.120379","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"120379"}}