{"title":"在特纳综合征胎儿的产前诊断中联合应用多种技术。","authors":"Weiping Chen, Tao Zhang","doi":"10.7754/Clin.Lab.2024.240141","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The clinical features of Turner syndrome (TS) involve multiple organ system dysplasia, among which growth retardation and gonadal dysplasia are the most important clinical phenotypes.</p><p><strong>Methods: </strong>G banding karyotype analysis, chromosome microarray (CMA), and fluorescence in situ hybridization (FISH) were used for prenatal diagnosis of fetal chromosomes.</p><p><strong>Results: </strong>The result of fetal chromosome karyotype analysis was 46,XX. CMA showed arr[GRCh38]Xp22.33 p22.13(251888_18176046)x1,Xq27.1q28(140998347_156003433)x3. FISH indicated that the short arm end fragment of X chromosome was monomer and the long arm end fragment was trisomy.</p><p><strong>Conclusions: </strong>The fetal chromosome karyotype was normal, but CMA indicated that there was deletion and duplication of X chromosome. FISH verified the CMA results, locating the deletion and duplication fragments. CMA and FISH make up for the shortcomings of chromosome karyotype analysis technique. It is suggested that multiple detection methods should be applied in genetic prenatal diagnosis.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"70 7","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Combined Application of Multiple Techniques in Prenatal Diagnosis of a Fetus with Turner Syndrome.\",\"authors\":\"Weiping Chen, Tao Zhang\",\"doi\":\"10.7754/Clin.Lab.2024.240141\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>The clinical features of Turner syndrome (TS) involve multiple organ system dysplasia, among which growth retardation and gonadal dysplasia are the most important clinical phenotypes.</p><p><strong>Methods: </strong>G banding karyotype analysis, chromosome microarray (CMA), and fluorescence in situ hybridization (FISH) were used for prenatal diagnosis of fetal chromosomes.</p><p><strong>Results: </strong>The result of fetal chromosome karyotype analysis was 46,XX. CMA showed arr[GRCh38]Xp22.33 p22.13(251888_18176046)x1,Xq27.1q28(140998347_156003433)x3. FISH indicated that the short arm end fragment of X chromosome was monomer and the long arm end fragment was trisomy.</p><p><strong>Conclusions: </strong>The fetal chromosome karyotype was normal, but CMA indicated that there was deletion and duplication of X chromosome. FISH verified the CMA results, locating the deletion and duplication fragments. CMA and FISH make up for the shortcomings of chromosome karyotype analysis technique. It is suggested that multiple detection methods should be applied in genetic prenatal diagnosis.</p>\",\"PeriodicalId\":10384,\"journal\":{\"name\":\"Clinical laboratory\",\"volume\":\"70 7\",\"pages\":\"\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical laboratory\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.7754/Clin.Lab.2024.240141\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2024.240141","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
背景：特纳综合征（TS）的临床特征涉及多器官系统发育障碍，其中生长发育迟缓和性腺发育不良是最重要的临床表型：方法：采用 G 带核型分析、染色体微阵列（CMA）和荧光原位杂交（FISH）对胎儿染色体进行产前诊断：胎儿染色体核型分析结果为46,XX。CMA显示[GRCh38]Xp22.33 p22.13（251888_18176046）x1，Xq27.1q28（140998347_156003433）x3。FISH显示X染色体短臂末端片段为单体，长臂末端片段为三体：结论：胎儿染色体核型正常，但CMA显示X染色体存在缺失和重复。FISH 验证了 CMA 结果，找到了缺失和重复片段。CMA 和 FISH 弥补了染色体核型分析技术的不足。建议在遗传产前诊断中应用多种检测方法。
Combined Application of Multiple Techniques in Prenatal Diagnosis of a Fetus with Turner Syndrome.
Background: The clinical features of Turner syndrome (TS) involve multiple organ system dysplasia, among which growth retardation and gonadal dysplasia are the most important clinical phenotypes.
Methods: G banding karyotype analysis, chromosome microarray (CMA), and fluorescence in situ hybridization (FISH) were used for prenatal diagnosis of fetal chromosomes.
Results: The result of fetal chromosome karyotype analysis was 46,XX. CMA showed arr[GRCh38]Xp22.33 p22.13(251888_18176046)x1,Xq27.1q28(140998347_156003433)x3. FISH indicated that the short arm end fragment of X chromosome was monomer and the long arm end fragment was trisomy.
Conclusions: The fetal chromosome karyotype was normal, but CMA indicated that there was deletion and duplication of X chromosome. FISH verified the CMA results, locating the deletion and duplication fragments. CMA and FISH make up for the shortcomings of chromosome karyotype analysis technique. It is suggested that multiple detection methods should be applied in genetic prenatal diagnosis.
期刊介绍：
Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
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