反复发生妊娠丢失的1949对夫妇染色体核型分析  

A cytogenetic analysis of recurrent fetal wastage in 1949 couples

作　　者：程琛[1] 邓东锐[1] 左伟[1] 彭琳[1] 党静[1] 周媛[1] 蒋敏[1] 何梦舟 凌霞珍[1] 王楠[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院妇产科,湖北武汉430030

出　　处：《中国妇幼健康研究》2013年第5期655-657,671,共4页Chinese Journal of Woman and Child Health Research

摘　　要：目的通过对反复发生妊娠丢失的夫妇进行染色体核型分析,探讨染色体畸变(如相互易位、罗伯逊易位、倒位等)及染色体多态性与反复妊娠丢失的关系,观察遗传因素在反复妊娠丢失中的重要性。方法对1994至2010年间因反复妊娠丢失而就诊的1 949对夫妇进行外周血淋巴细胞培养,常规染色体制片,行G显带处理,必要时做C显带,显微镜下进行染色体核型分析。结果检出染色体核型异常者113例,检出率为5.80%(113/1 949),其中数目异常者10例(0.51%),结构异常者103例(5.28%)。染色体结构异常中相互易位检出53例,罗伯逊易位检出20例,倒位检出24例,缺失检出5例,等臂染色体检出1例。染色体遗传多态性者检出73例,检出率为3.75%(73/1 949)。结论染色体异常(如染色体易位、倒位、缺失等)与反复妊娠丢失密切相关,对遗传咨询者进行染色体分析有助于明确病因,为产前诊断及优生优育提供科学依据。Objective To investigate the frequency of chromosomal abnormalities in couples with recurrent fetal wastage （ RFW） and assess the relevance between genetic factors and RFW , and to explore the importance of genetic factors in RFW .Methods From 1994 to 2010 the cytogenetic study was conducted in 1 949 couples （3 898 patients） who had RFW.Their peripheral blood lymphocytes were cultured . Chromosome karyotype analysis was conducted .Results Of 1 949 couples, chromosomal abnormalities were found in 113（5.80%,113/1 949） cases, including 10 （0.51%） cases of numerical chromosomal abnormalities and 103 （5.28%） cases of structural abnormalities . Of the cases of structural abnormalities , 53 cases were found with reciprocal translocations , 20 with robertsonian translocation , 24 with inversions, 5 with chromosomal deletion and 1 with isochromosome.Polymorphisms of heterochromatin were found in 73 cases, with the detection rate of 3.75%（73/1 949）.Conclusion Chromosomal abnormality is closely related with RFW .Chromosome analysis for genetic counseling is helpful in finding causes and in providing scientific basis for antenatal diagnosis and good birth .

关 键 词：反复妊娠丢失 细胞遗传学 染色体异常 临床价值 

分 类 号：R715[医药卫生—妇产科学]