{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T18:17:11Z","timestamp":1793643431344,"version":"4.5.1"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,23]],"date-time":"2025-02-23T00:00:00Z","timestamp":1740268800000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100010248","name":"Zhejiang Province Public Welfare Technology Application Research Project","doi-asserted-by":"publisher","award":["LGF21H260005"],"award-info":[{"award-number":["LGF21H260005"]}],"id":[{"id":"10.13039\/501100010248","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Although spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies and variant spectrums of these diseases show regional differences, even within China. Their carrier frequencies and variant spectrums in Southern Zhejiang, China are unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Saliva was collected for carrier screening and amniotic fluid, villi, and peripheral blood were collected for prenatal diagnosis. Real\u2010time quantitative polymerase chain reaction (PCR) and multiplex ligation\u2010dependent probe amplification (MLPA) were used to detect the copy number of\n                      <jats:italic>SMN1<\/jats:italic>\n                      exon 7. PCR coupled with flow\u2010through hybridization, MLPA, and Sanger sequencing were used to detect common genes for HL and thalassemia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Common variants were detected in 15.14% (2109\/13926) of the 13,926 women of reproductive age from South Zhejiang who participated in this study. The carrier frequencies of SMA, HL, and thalassemia were 2.11% (294\/13926), 4.87% (678\/13926), and 8.82% (1228\/13926), respectively. In total, 56.47% (1117\/1978) of husbands were successfully recalled. The total number of at\u2010risk couples was 111 (111\/13926, 0.80%). Further, 47 families underwent prenatal diagnosis. A total of 13 (13\/13926; 0.93\u2030) affected pregnancies were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our findings confirm that SMA, HL, and thalassemia are highly prevalent in Southern Zhejiang, with some regional specificity, as compared with recent large population\u2010based surveys in China. Further, a rapid saliva sample\u2010based non\u2010invasive screening method was established, and its feasibility was demonstrated.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70064","type":"journal-article","created":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T06:39:37Z","timestamp":1740983977000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Saliva Sample\u2010Based Non\u2010Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8102-6074","authenticated-orcid":false,"given":"Chenyang","family":"Xu","sequence":"first","affiliation":[{"name":"Key Laboratory of Birth Defects, Department of Genetics Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanbao","family":"Xiang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects, Department of Genetics Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoling","family":"Lin","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects, Department of Genetics Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qifan","family":"Ma","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects, Department of Genetics Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunzhi","family":"Xu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects, Department of Genetics Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4625-3057","authenticated-orcid":false,"given":"Huanzheng","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects, Department of Genetics Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2918-8532","authenticated-orcid":false,"given":"Shaohua","family":"Tang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects, Department of Genetics Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqin","family":"Xu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects, Department of Genetics Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-020-2085-2"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2023.101942"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2014.01.011"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1356068"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010019\u20100093\u20108"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001203\u2010z"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010019\u201040089\u20105"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2017.09.001"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102164\u201015\u2010262"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0025\u20106196(11)63220\u20105"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.03.018"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2185"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2020.108135"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2018.11.008"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.4103\/0022\u20103859.105451"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050700"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102350\u20105\u20105"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15010017"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1345.002"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010102319\u2010103602"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41372\u2010019\u20100451\u20105"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/10760296221119807"},{"issue":"5","key":"e_1_2_12_26_1","first-page":"348","article-title":"Mutation Analysis of Cx26 Gene in Chinese Hereditary Nonsyndromic Deafness Sufferers","volume":"37","author":"Xu Y.","year":"2002","journal-title":"Zhonghua Er Bi Yan Hou Ke Za Zhi"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246\u2010023\u201000520\u20105"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0089855"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/AUD.0000000000001274"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2020.03.001"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0128691"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2024.1357476"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70064","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.70064","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70064","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T21:59:34Z","timestamp":1789163974000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70064"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/mgg3.70064"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70064","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"2024-02-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70064"}}