荧光原位杂交技术在妊娠流产组织染色体检测中的应用  

Application of fluorescence in situ hybridization in chromosome detection of pregnancy tissue after abortion

作　　者：夏开德 吴忠琴 李文俶 刘红美 刘丽伟 

机构地区：[1]贵州省妇幼保健院优生遗传科,贵州贵阳550003 [2]贵州医科大学生物与工程学院医学生物技术教研室,贵州贵阳550025 [3]贵州省妇幼保健院康复科,贵州贵阳550003

出　　处：《中国妇幼保健》2017年第22期5681-5684,共4页Maternal and Child Health Care of China

基　　金：贵州省科技计划项目(黔科合平台人才[2016]5603);贵州省科技计划项目(黔科合支撑[2017]2889)

摘　　要：目的探讨贵州地区孕妇胚胎停止发育或发育异常终止妊娠病因中染色体异常的发生情况,为临床遗传咨询及指导流产夫妇的再次妊娠提供理论依据。方法建立标准化的妊娠流产绒毛或胎儿组织的荧光原位杂交(FISH)技术检测染色体方法,应用FISH技术快速检测182例流产绒毛或胎儿组织的13、16、18、21、22号染色体及性染色体的染色体数目。结果检测出72例染色体数目异常,占总病例数的39.56%。主要以单一染色体异常为主,常见的是X-单体、16-三体和22-三体的染色体异常类型,占异常构成比分别为19.44%、20.83%和15.27%;而有14例为三倍体和四倍体,其中XXY;三倍体类型的染色体异常类型最常见,占异常构成比的9.72%。结论 FISH技术可以快速、简便地检测出染色体数目异常,且可以初步了解胚胎停止发育或发育异常终止妊娠的病因,对临床遗传咨询及指导流产夫妇的再次妊娠具有重要的指导意义。Objective To explore the prevalence of chromosomal abnormalities among the causes of termination of pregnancy induced by embryo growth arrest or abnormal embryo development in pregnant women in Guizhou region,provide a theoretical basis for clinical genetic counselling and guidance of subsequent pregnancy among the couples with abortion history.Methods Standardized fluorescence in situ hybridization（FISH） was established to detect chromosomes in villi tissue or fetal tissue after aobrtion.FISH was used to rapidly detect chromosomes 13,16,18,21,22 and sex chromosomes in villi tissue or fetal tissue after abortion in 182 cases.Results Seventy-two cases were diagnosed as numerical abnormalities of chromosomes,accounting for 39.56%.Single chromosome abnormality was the main type,X monosome,trisomy 16,and trisomy 22 were common types,accounting for 19.44%,20.83%,and 15.27% of the abnormalities,respectively.Fifteen cases were diagnosed as triploid and tetraploid,triploidy XXY was the most common type,accounting for 9.72% of the abnormalities.Conclusion FISH can detect numerical abnormalities of chromosomes rapidly and conveniently,which can preliminarily investigate the causes of termination of pregnancy induced by embryo growth arrest or abnormal embryo development in pregnant women,and it has important guiding significance in clinical genetic counselling and guidance of subsequent pregnancy among the couples with abortion history.

关 键 词：荧光原位杂交 流产 染色体诊断 

分 类 号：R714.2[医药卫生—妇产科学]