染色体多态性与女性不良妊娠关系探讨

Analysis on the relationship between chromosome polymorphism and adverse pregnancy in females

目的研究染色体多态性与女性不良妊娠的关系。方法对2013年1月以来在本院妇产科就诊的1048例女性遗传咨询者行外周血染色体核型分析。结果在1048例女性遗传咨询者中检出染色体多态性核型32例,占3.05%。根据多态性变异可主要归为下列3种类型:(1)D/G组随体增加共6例,占多态性的18.75%;(2)次缢痕增加(包括1号、9号、16号染色体)共8例,占多态性的25%;(3)9号染色体臂间倒位共18例,占多态性的56.25%。染色体多态性组的复发性流产发生率、早产率和生育畸形儿率明显高于正常对照组,差异有统计学意义(P<0.01)。在412例出生缺陷儿的女性遗传咨询者中检出染色体多态性核型22例,占5.34%;在838例胎发生过流产的女性遗传咨询者中检出染色体多态性核型28例,占3.34%;在364例胚胎发育停止的女性遗传咨询者中检出染色体多态性核型18例,占4.95%。结论染色体多态性与女性不良妊娠有密切关系,对有不良妊娠史的女性应进行外周血染色体检查。

Objective：To investigate the relationship between chromosome polymorphism and adverse pregnancy in females. Methods：Since January 2013,a total of 1,048 cases of female heredity consultants visited at the department of gynaecology and obstetrics in our hospital were incorporated in the study for the analysis on chromosome karyotype in peripheral blood. Results：Of the 1,048 cases of female heredity consultants,32 cases were detected to have chromosome karyotypes,accounting for 3.05% of the total cases. It was mainly classified as the following 3 types according to the chromosome polymorphism：（1）6 cases increased with the weight increase of the neonate in the D/G group,making up 18.75% of the polymorphism;（2）increased chromosome secondary constriction（including chromosome 1,chromosome 9 and chromosome 16）in 8 cases（25%）;（3）pericentric inversion of chromosome 9 in 18 cases（56.25%）. Furthermore,the recurrent spontaneous abortion rate,premature birth rate and the rate of congenital malformation were significantly higher in the chromosome polymorphism group compared to those in the normal control group,with statistical differences（P〈0.01）. Meanwhile,in 412 female heredity consultants who had previous history of birth defects,there were 22 cases observed to have chromosome karyotypes,accounting for 5.34%;28 cases were found to have chromosome karyotypes and accounted for 3.34% in 838 female heredity consultants who had previous history of abortion;and there were 18 cases（4.95%）indicated chromosome karyotypes in 364 cases if female heredity consultants who used to have the development of embryos stops. Conclusion：Chromosome polymorphism is strongly correlated with adverse pregnancy in females,females with previous history of adverse pregnancy should receive examination of chromosome karyotype analysis in peripheral blood.