育龄期人群151种单基因病扩展型携带者筛查及产前诊断  

Expanded carrier screening and prenatal diagnosis of 151 single gene disease in reproductive age population

作　　者：王小端 李加山 张凯[1] 李朔[1] WANG Xiaoduan;LI Jiashan;ZHANG Kai;LI Shuo(Genetic Testing Center,Women and Children’s Hospital Affiliated to Qingdao University,Qingdao,Shandong 266034,China)

机构地区：[1]青岛大学附属妇女儿童医院基因检测中心,山东青岛266034

出　　处：《中国优生与遗传杂志》2024年第10期2101-2105,共5页Chinese Journal of Birth Health & Heredity

基　　金：青岛市临床重点专科建设项目。

摘　　要：目的对青岛地区的156名育龄期人群进行了151种疾病的扩展性携带者筛查(ECS),旨在了解受检者隐性遗传基因致病变异或疑似致病变异的携带情况,探讨扩展性携带者筛查应用价值。方法回顾性分析从2021年6月至2023年3月156例在青岛大学附属妇女儿童医院接受扩展性携带者筛查的患者,总结分析其致病/疑似致病基因变异携带率,检测范围内的高发疾病种类,夫妻双方具有相同基因变异的发生率。结果在这156例ECS检测者中,发现80例携带隐性基因致病变异或疑似致病变异。其中,有6对夫妻共同携带相同致病变异或疑似致病变异,已有3例进行了产前诊断,成功避免了1名患有隐性单基因遗传病患儿的出生。结论在孕前ECS可以有效发现检测者致病/疑似致病基因变异的携带情况,为生育方式咨询和产前诊断提供依据,通过辅助生殖技术等可有效预防高危患病儿童出生。Objective An extended carrier screening(ECS)of 151 diseases was carried out on 156 people of childbearing age in Qingdao.The purpose was to understand the carrier status of recessive genetic pathogenic variants or suspected pathogenic variants in the subjects,and to explore the application value of extended carrier screening.Methods A total of 156 patients who underwent extended carrier screening in Genetic Testing Center of Women and Children’s Hospital Affiliated to Qingdao University from June 2021 to March 2023 were retrospectively analyzed.The carrier rate of pathogenic/suspected pathogenic gene variants,the types of high-risk diseases within the detection range,and the incidence of the same gene variants in both husband and wife were summarized and analyzed.Results Among these 156 ECS testers,80 cases were found to carry recessive gene pathogenic variants or suspected pathogenic variants.Among them,6 couples carried the same pathogenic variant or suspected pathogenic variant together,and 3 cases had been diagnosed prenatally,successfully avoiding the birth of a child with recessive monogenic genetic disease.Conclusion ECS before pregnancy can effectively find the carrier of pathogenic/suspected pathogenic gene variants of the tester,provide the basis for fertility counseling and prenatal diagnosis,and effectively prevent the birth of high-risk children through assisted reproductive technology.

关 键 词：扩展性携带者筛查 隐性基因 致病变异/疑似致病变异 高通量测序 产前诊 

分 类 号：R714.5[医药卫生—妇产科学]