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目的探讨染色体异常与不良孕产史的关系。方法选取3 949对有不良孕产史的夫妇,采用外周血淋巴细胞培养、染色体G显带技术进行核型分析,必要时辅以C显带、N显带分析。结果共检出染色体异常核型及多态性变异394例,异常率为9.98%。其中,染色体数目异常12例,包括性染色体数目异常10例,占异常核型的2.54%;标记染色体2例,占异常核型的0.51%。染色体结构异常190例,占异常核型的48.22%,其中染色体易位153例,占异常核型的38.83%;染色体倒位127例,占异常核型的32.23%;插入5例,占异常核型的1.27%。其他结构异常7例,占异常核型的1.78%。染色体多态性变异90例,占异常核型的22.84%。结论染色体畸变是导致不良孕产史的重要原因之一,而染色体多态性与不良孕产史之间有一定的内在关联,因此对不良孕产史患者进行染色体检查是必要的。
Objective To investigate the relationship between chromosomal abnormalities and poor pregnancy history. Methods A total of 3 949 couples with adverse pregnancy history were enrolled in this study. Peripheral blood lymphocyte culture and chromosome G banding technique were used for karyotype analysis. When necessary, supplemented with C-banding and N-banding analysis. Results A total of 394 karyotypes and polymorphic mutations in chromosomal abnormalities were detected, with an abnormality rate of 9.98%. Among them, there were 12 cases with abnormal chromosome number, including 10 cases with abnormal sex chromosome number, accounting for 2.54% of the abnormal karyotype; 2 cases with chromosomal aberration, accounting for 0.51% of the abnormal karyotype. Chromosomal abnormalities in 190 cases, accounting for 48.22% of the abnormal karyotype, chromosomal translocation in 153 cases, accounting for 38.83% of anomalous karyotype; chromosome inversion in 127 cases, accounting for 32.23% of anomalous karyotype; insert in 5 cases, accounting for abnormal nuclear 1.27% of the type. Other structural abnormalities in 7 cases, accounting for 1.78% of abnormal karyotype. Chromosome polymorphism in 90 cases, accounting for 22.84% of abnormal karyotype. Conclusion Chromosome aberration is one of the important causes of adverse pregnancy history. Chromosome polymorphism is associated with poor pregnancy history. Therefore, it is necessary to carry out chromosomal examination in patients with poor history of pregnancy.