1559对反复流产夫妇的染色体异常和多态性分析

Major chromosomal abnormalities and chromosome polymorphism in 1559 couples with recurrent miscarriages

目的通过对1 559对反复流产夫妇的染色体异常和多态性分析,探讨遗传因素在反复流产中的重要影响,并做好遗传优生指导。方法对1 559对反复流产患者外周血进行G显带核型分析,必要时行荧光原位杂交(FISH)及比较基因组杂交芯片(aCGH)检测。结果 1 559对反复流产的夫妇染色体核型分析,发现异常核型315例,其中染色体多态性240例,数目异常7例,结构异常68例。结论反复流产的夫妇存在染色体异常和多态性的可能,染色体检查分析应作为常规的检查方法,临床医生在遗传咨询过程中应充分注意到染色体异常和多态性。

Objective To examine the major chromosomal abnormalities and chromosome polymorphism in 1 559 couples with recurrent miscarriages（RM）so as to explore the importance of genetic factors and provide genetic counseling.Methods Totally1 559 couples with spontaneous abortions were analyzed by using G-banding,and fluorescence in situ hybridization（FISH）or array comparative genomic hybridization（aCGH）were performed when necessary.Results Chromosomal anomalies were detected in 315 cases.Chromosome polymorphisms were detected in 240 cases,the abnormalities in number of chromosome in 7 cases,and the abnormalities in chromosome structure in 68 cases.Conclusion Chromosomal abnormality probably exists in cases of recurrent miscarriages.Chromosomal analysis in couples with recurrent miscarriages should be taken as conventional detection,and genetic counselors should pay attention to the chromosome polymorphism in the couples with recurrent miscarriages.