胚胎植入前遗传学检测的相关风险  

Related risks of preimplantation genetic testing

作　　者：鲍晓[1] 孙莹璞[1] BAO Xiao;SUN Ying-pu(Reproductive Medical Center,the First Affiliated Hospital of Zhengzhou University,Henan Key Laboratory of Reproduction and Genetics,Henan Clinial Researh Center for Obstetrics and Gynecology(Reproductive Medicine),Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院生殖医学中心,河南省生殖与遗传重点实验室,河南省妇产疾病(生殖医学)临床医学研究中心,河南郑州450052

出　　处：《中国实用妇科与产科杂志》2023年第10期991-995,共5页Chinese Journal of Practical Gynecology and Obstetrics

基　　金：国家自然科学基金面上项目(32370917)。

摘　　要：胚胎植入前遗传学检测(preimplantation genetic testing,PGT)是一种在移植前对胚胎进行遗传学检测的技术,主要适用于染色体异常、单基因遗传病、遗传易感的严重疾病等,在阻断致病基因子代传递、预防出生缺陷方面具有重要价值,但任何技术都存在一定的检测范围和局限性,尚需关注有关PGT活检对胚胎和子代长期发育的影响、遗传学检测的局限性存在的风险等。因此,在使用PGT技术的同时、必须重视PGT的相关风险,严格把握适应证,在PGT流程的不同环节需制定严格的操作标准和风险预防措施,做好充分的遗传咨询和知情同意。Preimplantation genetic testing(PGT)is a technique for genetic testing of embryos before implantation.It is mainly applied to chromosomal abnormalities,monogenetic diseases,and severe diseases of genetic susceptibility.It is of great value in blocking the transmission of pathogenic genes and preventing birth defects.However,any technique has a certain detection range and limitations.Attention should be paid to the impact of PGT biopsy on the long-term development of embryos and offspring,and the risks of limitations of genetic testing.Related risks should be pay attention to while using PGT technology.Doctors should strictly master the indications,formulate operating standards and take risk prevention measures in different links of the PGT process,as well as provide reliable genetic counseling and valid informed consent.

关 键 词：辅助生殖技术 胚胎植入前遗传学检测 风险 胚胎活检 

分 类 号：R321-33[医药卫生—人体解剖和组织胚胎学]