通过CNV-seq检测绒毛组织染色体畸变诊断稽留流产的价值分析  

Value analysis of chromosome aberration detection in villus tissue by CNV-seq in diagnosis of missed abortion

作　　者：谭满胜 谢清丰 唐玉芬[1] 陈红玲[2] TAN Mansheng;XIE Qingfeng;TANG Yufen;CHEN Hongling(Maoming Maternal and Child Health Care Hospital,Maoming Guangdong 525000;Department of Clinical Laboratory,Maoming People’s Hospital,Maoming Guangdong 525000)

机构地区：[1]茂名市妇幼保健院遗传优生优育科,广东茂名525000 [2]茂名市人民医院检验科,广东茂名525000

出　　处：《当代医药论丛》2023年第2期129-132,共4页

摘　　要：目的:探讨CNV-seq检测绒毛组织染色体畸变对稽留流产的诊断价值。方法:对2019年1月至2021年3月就诊于茂名市妇幼保健院并采用CNV-seq检测绒毛组织染色体畸变的175例稽留流产患者的临床资料进行回顾性分析,记录其CNV-seq检测结果,并分析CNV-seq检测的诊断价值。结果:175例患者中,成功检测173例,失败2例,检测成功率为98.86%,检测出染色体畸变108例,阳性检出率为62.43%;在染色体畸变中,阳性数目异常共91例,其中包括特纳综合征6例,同源二倍体6例,三倍体15例,2-三体2例,3-三体5例,22-三体10例等。其他异常共17例,其中包括复合异常/嵌合类8例,占7.41%(8/108);缺失类/重复类9例,占8.33%(9/108)。结论:CNV-seq检测稽留流产的绒毛组织染色体畸变,可较深入全面地分析染色体异常与稽留流产的关系,具有较好的诊断价值。Objective:To investigate the diagnostic value of chromosome aberration in villus tissue detected by CNV-seq in missed abortion.Methods:The clinical data of 175 missed abortion patients admitted to Maoming Maternal and Child Health Hospital from January 2019 to March 2021 were retrospectively analyzed.CNV-seq test results were recorded,and the diagnostic value of CNV-seq test was analyzed.Results:Among the 175 patients,173 cases were successfully detected,2 cases failed,the detection success rate was 98.86%,108 cases were detected chromosome aberration,the positive detection rate was 62.43%.There were 91 cases of abnormal positive number of chromosome aberrations,including 6 cases of Turner syndrome,6 cases of homologous diploid,15 cases of triploid,2 cases of 2-trisomy,5 cases of 3-trisomy,and 10 cases of 22-trisomy.There were 17 cases of other abnormalities,including 8 cases of compound abnormalities/chimeric abnormalities(7.41%,8/108).T here were 9 cases of missing or repeating classes,accounting f or 8.33%(9/108).Conclusion:CNV-seq can detect chromosome aberration of villus tissue in missed abortion,which can analyze the relationship between chromosome abnormality and missed abortion thoroughly a nd comprehensively,and has good diagnostic value.

关 键 词：CNV-seq检测 绒毛组织 染色体畸变 稽留流产 

分 类 号：R446[医药卫生—诊断学]