不良孕产夫妇外周血淋巴细胞及流产物的细胞遗传学分析

Chromosome analysis of peripheral blood lymphocyte and abortion products in 108 couples with reproductive failure

目的通过分析不良孕产夫妇外周血淋巴细胞及流产物的染色体核型,探讨不良孕产与染色体的关系。方法对108对不良孕产夫妇外周血淋巴细胞及其流产物进行染色体分析,G显带方法分析细胞核型,必要时采用C显带方法,并根据外周血染色体核型分析结果将其分为染色体异常组、染色体多态性组和染色体正常组,比较它们流产物染色体异常情况。结果 108对不良孕产夫妇外周血染色体异常8例(3.7%),其中相互易位4例,罗伯逊易位2例,臂间倒位2例;染色体多态性22例(10.2%);流产物染色体异常有57例(52.8%)。染色体异常组8例,其流产物染色体异常6例(75.0%);染色体多态性组21例,其流产物染色体异常12例(57.1%);染色体正常组79例,其流产物染色体异常39例(49.4%);染色体异常组流产物染色体异常率高于染色体多态性组,但差异没有统计学意义(χ2=0.78,P>0.05);染色体异常组与染色体正常组差异也没有统计学意义(χ2=1.91,P>0.05);染色体多态性组与染色体正常组差异也没有统计学意义(χ2=0.40,P>0.05)。结论不良孕产夫妇外周血染色体异常主要为染色体结构异常,同时染色体多态性检出率高,其可能与不良孕产存在相关性;流产物染色体检查有利于查明不良孕产的原因,合理指导下次妊娠。

Objective： To investigate the relationship between the reproductive failure and chromosome by use of the chromosomal karyotype analysis of blood lymphocyte and flow products in the couples with reproductive failure. Methods： Chromosome analyses were conducted on the blood and abortion products of 108 couples with reproductive failure, analyzed by G-banding in all cases and C-banding in some cases if necessary. And according to the results of the peripheral blood karyotype analysis, they compose of chromosome abnormality, chromosome polymorphism group and the normal chromosome group, and compare their chromosome abnormalities. Results： 8 （3.7%） of structural aberration was found, of which 4 cases were reciprocal translocation, robertsonian translocation in 2 cases, 2 inversion between the arms. A total of 22 （10.2%） of chromosome polymorphism was detected. 57 cases （52.8%） were detected in 108 cases of abortions with reproductive failure. 8 cases of abnormal peripheral blood chromosome product 6 cases （75.0%） of abnormal karyotype of their flow products. 21 cases of blood chromosome polymorphism product 12 cases （57.1%） of abnormal karyotype. 79 cases of blood normal chromosome product 39 cases （49.4%） of abnormal karyotype. Chromosome abnormality group product flow chromosome abnormality rate is higher than that of chromosomal polymorphism group, but the difference is not statistically significant （χ^2= 0.78, P〉 0.05） , chromosome abnormality group compares normal chromosome with no statistically significant （χ^2= 1.91, P〉 0.05） , chromosome polymorphism group compares normal chromosome with no statistically significant （χ^2 = 0.40, P〉 0.05） . Conclusion： Structural aberrations are the major abnormal karyotypes in the couples with reproductive failure.Meanwhile, the high incidence of chromosome polymorphism is probably related to infertility. Karyotype analysis of the abortion products helps finding out the causes of abortion and reasonably guide the next pregnancy.