染色体多态性与女性不良孕产关系探讨

Research on the correlation between chromosomal polymorphism and adverse pregnancy in women

目的研究染色体多态性与女性生殖异常的关系。方法对2007年1月-2015年6月在本院妇产科就诊的2 462例女性遗传咨询者,进行外周血染色体核型分析。结果 2 462例遗传咨询者共检出染色体多态性核型38例,占1.54%。其中D/G组随体增加9例,占23.68%;次缢痕增加12例,占31.58%;9号染色体臂间倒位17例,占44.74%。染色体多态性组的复发性流产发生率明显高于对照组,差异有统计学意义(P<0.01);死胎和生育智障儿发生率与对照组差异无统计学意义(P>0.05)。从临床表现来看,在不孕、胎儿畸形及出生缺陷、胚胎停止发育的女性中,其染色体多态性变异的发生率分别为3.93%、7.32%、8.97%。结论染色体多态性与复发性流产、胎儿异常存在相关性,对不良妊娠史者应进行外周血染色体检查。

Objective To study the relationship between chromosome polymorphism and reproductive abnormalities in women. Methods An analysis of the chromosomal karyotypes of the peripheral blood of 2 462 female genetic consultants admitted to the department of obstetrics and gynecology of our hospital from January, 2007 to June, 2015 was performed. Results Of the 2 462 genetic consultants, chromosomal polymorphism was detected in 38 consultants （ 1.54% ）, including increased satellites in the D/G group in 9 consultants（ 23. 68% ）, increased secondary constrictions in 12 consuhants（ 31. 58% ） and pericentrie in- version of chromosome 9 in 17 consultants （44.74%）. The incidence of recurrent abortion of the chromosomal polymorphism group was significantly higher than that of the control group, and the difference was statistically significant（ P 〈 0.01 ）. The two groups were not significantly different in the incidence of stillbirth and birth of mentally retarded children （P 〉 0.05 ）. From the perspective of clinical manifestations, the incidences of chromosomal polymorphic variation in women with infertility, birth de- fects and fetal malformations, and embryo development ceasing were 3.93%, 7.32% and 8.97%, respectively. Conclu- sion Chromosomal polymorphism is correlated with recurrent abortion and fetal anomaly, and examinations of chromosomes of the peripheral blood should be performed on women with an adverse nre^nancv history.