不良孕产史及不育不孕夫妇的外周血异常染色体核型特点分析  

RELATIONSHIP OF PERIPHERAL BLOOD ABNORMAL KARYOTYPE WITH ADVERSE PREGNANCY HISTORY AND INFERTILITY

作　　者：刘岩[1] 熊德玲 宋莉[1] 简洁 LIU Yan;XIONG Deling;SONG Li;JIAN Jie(Dazhou Hospital of Integrated Traditional Chinese and Western Medicine,Dazhou 635000,China)

机构地区：[1]四川省达州市中西医结合医院,635000

出　　处：《中国煤炭工业医学杂志》2022年第4期379-384,共6页Chinese Journal of Coal Industry Medicine

基　　金：四川省教育厅科研项目(编号:18ZB0226)。

摘　　要：目的 分析不良孕产史及不育不孕夫妇的外周血异常染色体核型特点。方法 选取2015年7月—2020年12月至该院进行遗传咨询的不良孕产史及不育不孕夫妇585对(1 170例),均采用外周血淋巴细胞培养方法常规制备染色体标本,经G显带技术进行染色体核型分析。结果 585对(1 170例)不良孕产史及不育不孕夫妇中,有115例检出异常染色体核型,异常核型检出率为9.83%(115/1 170);115例异常染色体核型中,包括常染色体异常93例,占异常核型的80.87%,其中臂间倒位27例(23.48%)、易位23例(20.00%)、罗伯逊易位17例(14.78%)、染色体多态性26例(22.61%),臂间倒位中9号倒位、7号倒位、6号倒位、1号倒位分别21例、3例、2例、1例;性染色体异常22例,占异常核型的19.13%,其中染色体数目异常、染色体结构异常、性反转分别15例、6例、1例;男性染色体异常核型检出率9.57%低于女性10.08%,但差异无统计学意义(P>0.05),男女性的异常核型构成比较差异有统计学意义(P<0.05),其中男性染色体数目异常占比高于女性(P<0.05);染色体核型异常者临床表现多为习惯性流产或胚胎停育、胎儿染色体异常、死胎与死产、畸胎史、产先天性疾病患儿、无精子、少精子与弱精子。结论 对不良孕产史及不孕不育夫妇应进行染色体核型分析及遗传咨询,在提高人口素质中有重要意义。Objective To analyze the relationship of peripheral blood abnormal karyotype with adverse pregnancy history and infertility.Methods Totally give hundred and eighty-eighty-five couples(1,170 cases) with adverse pregnancy history and infertility who had genetic counseling in the hospital from July 2015 to December 2020 were enrolled in the study.The peripheral blood lymphocyte culture method was used to prepare chromosome specimens, and G banding technique was used for karyotype analysis.Results Of 585 couples(1,170 cases) with adverse pregnancy history, 115(9.83%) were detected with abnormal karyotype, including 93 cases with autosomal abnormalities, accounting for 80.87%.Among them, there were 27 cases(23.48%) with pericentric inversion, 23 cases(20.00%) with translocation, 17 cases(14.78%) with Robertsonian translocation, and 26 cases(22.61%) with chromosome polymorphism.There were 21 cases, 3 cases, 2 cases and 1 case carrying chromosome 9 inversion, chromosome 7 inversion, chromosome 6 inversion andchromosome 1 inversion, respectively.22 cases(19.13%) had sex chromosome abnormalities, including 15 cases with chromosome numerical abnormalities, 6 cases with abnormal chromosome structure, and 1 case with sex reversal.The detection rate of male chromosomal abnormalities was 9.57%,lower than 10.08% in females, showing no statistically significant difference(P>0.05),the difference in abnormal karyotype was statistically significant(P<0.05),and the proportion of chromosome numerical abnormalities was higher in males than in females(P<0.05).The clinical manifestations of subjects with abnormal karyotype mainly included habitual abortion or embryo damage, fetal chromosomal abnormalities, stillbirth, embryo deformity history, birth of fetus with congenital diseases, azoospermia, oligospermia, and asthenospermia.Conclusion Karyotype analysis and genetic counseling should be carried out in couples with adverse pregnancy history and infertility, which is of great significance in improving population quality.

关 键 词：外周血 染色体 核型 不良孕产史 不育不孕 

分 类 号：R71[医药卫生—妇产科学]