5488对异常孕产史夫妇的细胞遗传学研究

Study on Cytogenetics of 5,488 Couples with Abnormal Pregnancy-Labor History

目的探讨染色体异常与异常孕产史的关系。方法采用外周血淋巴细胞培养和染色体G显带分析,对5488对异常孕产史的夫妇进行核型分析。结果检出异常核型443例,异常率4.04%。其中数目异常25例,平衡易位182例,臂间倒位67例,多态性变异166例,缺失3例。结论异常孕产史不但与染色体畸变有关,与染色体多态性也有关联。对异常孕产史的夫妇进行染色体检查是十分必要的,有助于病因的诊断和分析,为其生育及治疗提供指导。

Objective To analyze the relationship between abnormal cytogenetics and abnormal pregnancy-labor history. Methods Peripheral blood sample from S, 488 couples with abnormal pregnancy-labor history was collected. Then the chromosomal karyotype was analyzed through the culture of peripheral blood lymphocyte and G-dominance band of the chromosomes. Results Totally we detected abnormal chromosome karyotype in 443 cases. The overall incidence of chromosomal abnormalities was 4.04%. Abnormal karyotype included numerical abnormalities for 25 cases, balancedtranslocation for 182 cases, pericentromric inversions for 67 cases, polymorphic variation for 166 cases, and deletion for 3 cases. Conclusions Abnormal pregnancy-labor history is not only associated with chromosome aberration, but also with chromosome polymorphism. It is necessary for couples with abnormal pregnancy-labor history to take chromosome examination. it will be belpful to analyze the etiology and offer guidance for subsequent pregnancy and clinical therapy.