912例复发性流产夫妇细胞遗传学分析  

Cytogenetic analysis of 912 cases with recurrent miscarriage

作　　者：陈小丽 孙诗雨 刘彩玉 王晓娅 崔倩 CHEN Xiaoli;SUN Shiyu;LIU Caiyu(Department of Medical Genetics,Weihai Maternal and Child Health Hospital,Shandong Weihai 246200)

机构地区：[1]威海市妇幼保健院医学遗传科,山东威海264200

出　　处：《医学检验与临床》2023年第9期36-40,共5页Medical Laboratory Science and Clinics

摘　　要：目的:通过对复发性流产患者的细胞遗传学分析,研究复发性流产和染色体核型异常之间的关系。方法:选取2015年1月-2019年12月于威海市妇幼保健院就诊的456对(912例)复发性流产患者夫妇,采集外周血行淋巴细胞培养和染色体核型分析。结果:在912例复发性流产夫妇中,共检出染色体异常36例,异常率为3.95%,其中相互易位22例(2.41%),罗氏易位6例(0.55%),倒位3例(0.66%),缺失1例(0.11%),包括性染色体嵌合3例(0.33%),Maker染色体合1例(0.11%),另外检出多态性变异54例(5.92%)。结论:染色体异常是导致复发性流产的重要遗传因素,对于复发性流产患者夫妇常规行染色体检查是非常必要的,有助于病因分析,为遗传咨询及临床指导提供依据。Objective:To investigate the relationship between recurrent miscarriage recurrent miscarriage and abnormal chromosome karyotypes by cytogenetics analysis.Methods:From January 2015 to December 2019,a total of 912 recurrent miscarriage couples from Weihai maternal and child health center were enrolled in this study.Peripheral blood samples were collected for lymphocyte culture and karyotype analysis.Results:Among the 912 recurrent miscarriage couples,36 Chromosome abnormality were found,the abnormal rate was 3.95%,including 22 cases of reciprocal translocation(2.41%),6 cases of Roche translocation(0.55%),3 cases of inversion(0.66%),deletion was found in 1 case(0.11%),including sex chromosome chimerism in 3 cases(0.33%),Maker chromosome combination in 1 case(0.11%),and polymorphic variation in 54 cases(5.92%).Conclusion:Chromosome abnormality is an important genetic factor that causes recurrent miscarriage,and routine chromosome examination is necessary for couples with recurrent abortion,which is helpful for etiological analysis,to provide basis for genetic counseling and clinical guidance.

关 键 词：复发性流产 遗传因素 染色体异常 细胞遗传学分析 

分 类 号：R714.21[医药卫生—妇产科学]