邯郸地区染色体易位与不良孕产的研究  

A Study on Chromosomal Translocation and Adverse Pregnancy Events in Handan Area

作　　者：梁淳[1] 平慧[1] 张小芳[1] 李守霞[1] 宋亚娟[1] 鲁静 郭红霞[1] 陈丁莉[1] 郭丽丽[1] LIANG Chun;PING Hui;ZHANG Xiaofang;LI Shouxia;SONG Yajuan;LU Jing;GUO Hongxia;CHEN Dingli;GUO Lili(Clinical Laboratory of Handan Central Hospital,Handan 056000,China)

机构地区：[1]邯郸市中心医院检验科,河北邯郸056000

出　　处：《标记免疫分析与临床》2024年第7期1248-1253,共6页Labeled Immunoassays and Clinical Medicine

基　　金：邯郸市科学技术研究与发展计划项目(编号:21422083113)。

摘　　要：目的探讨邯郸地区染色体易位与不良孕产的相互关系。方法回顾性分析2011年8月至2023年8月来邯郸市中心医院遗传咨询的8960例患者,对患者外周血进行淋巴细胞培养,收获后制备染色体标本,进行染色体核型分析,选取确诊的79例染色体易位患者作为观察组,随机选取染色体核型分析结果正常的79例受试者作为对照组,对两组不良孕产的差异性进行探讨研究。结果8960例遗传咨询患者中检出染色体易位79例,异常率0.88%,包括平衡易位56例(70.89%)和罗伯逊易位23例(29.11%)。观察组发生自然流产、胚胎停育、生育畸形儿及不孕不育等不良孕产的概率显著高于对照组(P<0.05),对照组无不良孕产发生的概率显著高于观察组(P<0.05)。结论染色体易位是影响自然流产、胚胎停育、生育畸形儿、不孕不育等不良孕产的重要原因之一,对不良孕产的夫妇双方早期进行染色体检查及辅助生殖有着非常重要的意义。Objective To explore the relationship between chromosomaltranslocation and adverse pregnancy events in Handan area.Methods A retrospective analysis was performed in 8,960 patients who visited Handan Central Hospital for genetic counseling from August,2011 to August,2023.Lymphocyte culture was performed on peripheral blood samples of these patients,and chromosome samples were prepared after harvesting for chromosome karyotype analysis.79 patients with confirmed chromosomal transmutation were selected as the observation group,while 79 patients with normal karyotype were randomly selected as the control group.The differences between the two groups and adverse pregnancy events were evaluated.Results Among 8960 genetic counseling patients,79 cases of chromosomal translocations were detected,with an abnormal rate of 0.88%,including 56 cases of balanced translocations(70.89%)and 23 cases of Robertson translocations(29.11%).The probability of spontaneous abortion,embryo termination,birth defect and infertility in the observation group was significantly higher than that in the control group(P<0.05),and the probability of no adverse pregnancy events in the control group was significantly higher than that in the observation group(P<0.05).Conclusion Chromosomal translocation is one of the important leading factors that can affect spontaneous abortion,embryo termination,birth defect,and infertility.It is of great significance to conduct chromosomal examination and assisted reproduction in the early stage of couples with adverse pregnancy events.

关 键 词：染色体 易位 不良孕产 外周血核型分析 

分 类 号：R596.1[医药卫生—内科学]