自贡地区4059例不孕不育及不良孕产史患者外周血染色体核型分析  

Chromosome karyotype analysis in peripheral blood of 4059 patients with infertility and adverse pregnancy and delivery history in Zigong area

作　　者：曾余[1] 周子靖 陈月华[1] 韦懿[1] 胡勤 ZENG Yu;ZHOU Zijing;CHEN Yuehua;WEI Yi;HU Qin(Department of Clinical Laboratory,Zigong Municipal Maternal and Child Health Care Hospital,Zigong,Sichuan 643000,China)

机构地区：[1]四川省自贡市妇幼保健院检验科,四川自贡643000

出　　处：《检验医学与临床》2024年第1期34-38,44,共6页Laboratory Medicine and Clinic

基　　金：四川省自贡市科学技术局项目(2020ZC29)。

摘　　要：目的 分析自贡地区不良孕产史及不孕不育患者外周血染色体异常核型,探讨其分布特点,为临床咨询提供依据。方法 选取2014年1月至2022年12月于该院遗传生殖医学中心进行遗传咨询的不孕不育及不良孕产史患者4 059例作为研究对象,制备外周血染色体标本后应用G显带技术分析染色体核型。结果 异常染色体核型检出率为14.54%(590/4 059);异常染色体核型中,染色体数目异常44例(7.46%),染色体结构异常546例(92.54%,包含多态性),其中非罗氏平衡易位32例(5.42%)、罗氏易位18例(3.05%)、倒位56例(9.49%)、缺失/重复3例(0.51%)、社会性别不符3例(0.51%)、多态性432例(73.22%)。自贡地区2021年以前遗传咨询患者人数比较均衡,2022年咨询人数陡增,染色体异常检出例数与前期比较增加不明显,染色体多态性检出数与染色体总异常数走势一致,染色体数目异常和结构异常近几年检出数较均衡。结论 自贡地区不良孕产史及不孕不育患者异常染色体核型检出率高于其他地区,对重点人群进行遗传分析有助于查明病因,指导生育,提高人口质量,为该地区遗传咨询及染色体核型分析提供参考。Objective To analyze the karyotype abnormality of chromosome in peripheral blood of the patients with adverse pregnancy and delivery history and infertility in Zigong area,and to explore its distribution characteristics,so as to provide an evidence for clinical consultation.Methods A total of 4059 patients with infertility and adverse pregnancy and delivery history received the genetic counseling in the Genetic Reproductive Medicine Center of this hospital from January 2014 to December 2022 were selected as study subjects.After preparing the peripheral blood chromosome sample,the chromosome karyotypes were analyzed by the G-banding technique.Results The detection rate of abnormal chromosome karyotype was 14.54%(590/4059).Among the abnormal chromosome karyotypes,44 cases(7.46%)had the chromosome number abnormality,546 cases(92.54%)had the chromosome structure abnormality(including polymorphism),among which,there were 32 cases(5.42%)of balanced translocation,18 cases(3.05%)of Roche translocation,56 cases(9.49%)of inversion,3 cases(0.51%)of deletion or duplication,3 cases(0.51%)of social gender discrepancy and 432 cases(73.22%)of polymorphism.In Zigong area,the number of genetic counseling patients was balanced before 2021,and the number of counseling patients was increased sharply in 2022.The number of the cases of detected chromosome abnormalities did not increase significantly compared with the previous period.The number of detected chromosome polymorphism was consistent with the total number trend of chromosome total abnormalities,and the number of detected chromosome abnormalities and structural abnormalities was balanced in recent years.Conclusion The detection rate of abnormal chromosome karyotype in the patients with adverse pregnancy and delivery history and the patients with infertility in Zigong area was higher than that in the other areas.Conducting the genetic analysis on the key population is helpful to find out the causes,guide fertility,improve the population quality,and provide reference for local g

关 键 词：不孕不育 不良孕产史 染色体核型 染色体多态性 自贡 

分 类 号：R715.5[医药卫生—妇产科学] R394.2[医药卫生—临床医学]