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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 relationship between chromosomal aberrations (such as reciprocal translocation, Robertsonian translocation, inversion, etc.) and chromosomal polymorphisms and loss of recurrent pregnancy, and to observe the effect of genetic factors in repeated pregnancies The importance of being lost. Methods A total of 1 499 couples treated during pregnancy from 1994 to 2010 were enrolled in this study. Peripheral blood lymphocytes were cultured in conventional chromosomal format with G banding. When necessary, C-banding was performed and the karyotypes were analyzed under a microscope. Results A total of 113 karyotype abnormalities were detected, with a detection rate of 5.80% (113/1 949). Among them, 10 cases (0.51%) had abnormal number and 103 cases (5.28%) had abnormal structure. Chromosome structural abnormalities were detected in 53 cases of mutual translocation, Robertson detected 20 cases of translocation, 24 cases of inverted detection, deletion detected in 5 cases, the other arm chromosome was detected in 1 case. Chromosome genetic polymorphism were detected in 73 cases, the detection rate was 3.75% (73/1 949). Conclusion Chromosomal abnormalities (such as chromosomal translocation, inversion, deletion, etc.) are closely related to the loss of repeated pregnancies. Chromosomal analysis of genetic counselors may help to clarify the cause and provide a scientific basis for prenatal diagnosis and prenatal and postnatal care.