具有不良孕产史夫妇染色体分析

Chromosomal analysis of peripheral blood in couples with adverse pregnancy history

目的探讨外周血染色体核型与不良孕产史的关系。方法对724例不良孕产史患者的外周血淋巴细胞进行培养、制片及G显带染色体核型分析。结果 724例不良孕产史患者染色体异常者10例,检出率1.38%。男性391例,染色体异常者5例,检出率1.28%;女性333例,染色体异常者5例,检出率1.50%。异常染色体有染色体易位8例(1.10%),表现为复发性流产,男性少弱精症;倒位1例(0.14%),意义不明的变异46XX,10q11.1+,1例(0.14%)均表现为复发性流产。染色体多态性改变91例(12.57%),女性中染色体多态性占5.71%,男性中染色体多态性占18.41%,表现为育畸形儿、葡萄胎、复发性流产及男性少弱精症。结论不良孕产史与染色体畸变有关,染色体多态性在不良孕产史患者有一定的检出率,其与生殖的关系需更深入的探讨。

Objective： To explore the relationship between chromosomal karyotype in peripheral blood and adverse pregnancy history. Methods： The lymphocytes in peripheral blood in 724 patients with adverse pregnancy history were cultured for analyzing G-binding chromosome karyotyping. Results： The abnormal karyotype was found in 10 of 724 patients with adverse pregnancy history,and the abnormal karyotype rate was 1.38%. The abnormal karyotype rate was 1.28% （5/391）in male patients and 1.50% （5/333）in female patients. Among 10 patients with abnormal karyotypes, eight（1.10%）were translocations with the clinical feature of recurrent spontaneous abortion or male oligoasthenozoospermia, one（0.14%）paraeentric inversion and one（0.14%）equivocal chromosome variation 46XX,10qll. l^-with a history of recurrent spontaneous abortion. The chromosome polymorphism was found in 91 of 724 （12.57%）patients. The polymorphism carriers accounted for 5.71% in female patients and 18.41% in male patients. The clinical features included congenital malformation, hydatidiformmole, recurrent spontaneous abortion and male oligoasthenozoospermia. Conclusions： Adverse pregnancy outcome is related to chromosomal aberration. The patients with adverse pregnancy outcome have certain incidence of polymorphisms. This fact promotes us to explore in depth the relationship between chromosome polymorphism and adverse pregnancy.