单基因隐性遗传疾病扩展性携带者筛查的临床应用研究  

Clinical Application of Extended Carrier Screening for Monogenic Recessive Genetic Diseases

作　　者：彭伟 段超群 李清 刘珍 韩艳 袁照清 PENG Wei;DUAN Chaoqun;LI Qing(Department of Reproduction,Yichun Maternal and Child Health Hospital,Yichun City,Jiangxi Province 336000)

机构地区：[1]江西省宜春市妇幼保健院生殖科,336000

出　　处：《医学理论与实践》2023年第19期3263-3266,共4页The Journal of Medical Theory and Practice

摘　　要：目的:了解本地区不孕症患者的单基因隐性遗传疾病携带情况,探讨单基因隐性遗传疾病扩展性携带者筛查对辅助生殖助孕患者的应用价值。方法:回顾分析2021年1月—2022年4月于我院辅助生殖科采用序贯筛查的方式进行单基因隐性遗传疾病扩展性携带者筛查(ECS)的夫妇的临床资料,对ECS检测的阳性率、携带致病基因的种类进行总结分析。结果:324对夫妇同意采用序贯筛查的方式进行ECS检测,先对324名女性患者进行检测,141名女性为阳性携带者,检测阳性率为43.5%(141/324),共检测出72种单基因隐性遗传疾病,最常见为α-地中海贫血,携带率为6.2%(20/324);其次是眼皮肤白化病2型(OCA2基因)、β-地中海贫血、隐性耳聋1A型(GJB2基因)、谷固醇血症(ABCG5基因),携带率分别为3.4%、2.5%、2.5%、2.5%。对女方携带者阳性夫妇进行遗传咨询,建议其伴侣进行检测,64名男性患者接受ECS检测,4对夫妇(1.2%)被发现为高危风险夫妇,进行遗传咨询后其中3对选择胚胎植入前单基因病遗传检测(PGT-M)助孕治疗。结论:ECS检测可以发现单基因隐性遗传性疾病携带者,筛查生育高危风险夫妇,通过遗传咨询降低生育风险,可以为患者提供有效的决策支持和生殖自主权。Objective:To understand the carrier status of monogenic recessive genetic diseases in infertility patients in this region,and to explore the application value of extended carriers of monogenic recessive genetic diseases to assisted reproduction and pregnancy patients.Methods:The clinical data of couples who underwent sequential screening for extended carriers of single-gene recessive genetic diseases(ECS)from January 2021 to April 2022 in the assisted reproductive department of our hospital reviewed,and the positive rate of ECS test and the types of pathogenic genes were summarized and analyzed.Results:324 couples agreed to ECS by sequential screening,first tested on 324 female patients,141 women were positive carriers,the positive rate was 43.5%(141/324).A total of 72 monogenic recessive genetic disorders were detected,the most commonα-thalassemia,Carrying ability rate 6.2%(20/324),next by ocular skin albinism type 2(OCA2 gene),β-thalassemia,recessive deafness type 1A(GJB2 gene),glutinolemia(ABCG5 gene),the distribution of 3.4%,2.5%,2.5%,2.5%.Genetic counseling of female carrier-positive couples,suggest that their partner be tested,64 male patients who underwent ECS testing,4 couples(1.2%)were found to be high-risk couples,after genetic counseling,three pairs modified their reproductive planning by undergoing ART with Preimplantation Genetic Testing for Monogenic disease.Conclusion:ECS testing can identify carriers of monogenic genetic diseases,screen couples at high risk of fertility,reduce fertility risk through genetic counseling,and can provide effective decision support and reproductive autonomy for patients.

关 键 词：扩展性携带者筛查 隐性遗传疾病 辅助生殖 

分 类 号：R711.6[医药卫生—妇产科学]