{"title":"【疾病纳入扩大携带者筛查的研究进展】。","authors":"J Tan, J X Tan, B B Shao, Y Wang, Z F Xu","doi":"10.3760/cma.j.cn112141-20230113-00014","DOIUrl":null,"url":null,"abstract":"扩展性携带者筛查是出生缺陷一级预防的主要措施之一，在过去数年取得了长足发展，实现了单基因遗传病由被动诊治模式向主动预防模式的突破性转变，其可行性及临床应用价值得到了广泛认可。随着技术的进步，可筛查的单基因遗传病达千余种。但是，哪些单基因遗传病适合临床大规模筛查一直是产前诊断领域内争论的焦点。本文针对扩展性携带者筛查病种纳入的数量、疾病属性、受试者的意见、社会伦理学影响等方面的国内外研究进展进行综述，为扩展性携带者筛查在临床规范有序的开展提供依据。.","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"58 9","pages":"708-711"},"PeriodicalIF":0.0000,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Research progress of disease inclusion in expanded carrier screening].\",\"authors\":\"J Tan, J X Tan, B B Shao, Y Wang, Z F Xu\",\"doi\":\"10.3760/cma.j.cn112141-20230113-00014\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"扩展性携带者筛查是出生缺陷一级预防的主要措施之一，在过去数年取得了长足发展，实现了单基因遗传病由被动诊治模式向主动预防模式的突破性转变，其可行性及临床应用价值得到了广泛认可。随着技术的进步，可筛查的单基因遗传病达千余种。但是，哪些单基因遗传病适合临床大规模筛查一直是产前诊断领域内争论的焦点。本文针对扩展性携带者筛查病种纳入的数量、疾病属性、受试者的意见、社会伦理学影响等方面的国内外研究进展进行综述，为扩展性携带者筛查在临床规范有序的开展提供依据。.\",\"PeriodicalId\":10050,\"journal\":{\"name\":\"中华妇产科杂志\",\"volume\":\"58 9\",\"pages\":\"708-711\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-09-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中华妇产科杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3760/cma.j.cn112141-20230113-00014\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华妇产科杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112141-20230113-00014","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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