多基因疾病胚胎植入前遗传学检测的研究进展及挑战  

Research progress and challenges of preimplantation genetic testing for polygenic diseases

作　　者：吴晓婧 潘洁雪 朱依敏[1,2,4] 黄荷凤[1,2,3,4,5,6] WU Xiaojing;PAN Jiexue;ZHU Yimin;HUANG Hefeng(Zhejiang University School of Medicine,Hangzhou 310058,China;Women’s Hospital,Zhejiang University School of Medicine,Hangzhou 310006,China;Department of Reproductive Medicine,Obstetrics and Gynecology Hospital,Fudan University,Shanghai 200090,China;Ministry of Education Key Laboratory of Reproductive Genetics,Department of Reproductive Endocrinology,Zhejiang University School of Medicine,Hangzhou 310006,China;Shanghai Key Laboratory of Embryo Original Diseases,Research Units of Embryo Original Diseases,Chinese Academy of Medical Sciences,Shanghai 200030,China;Institute of Reproduction and Development,Obstetrics and Gynecology Hospital,Fudan University,Shanghai 200030,China)

机构地区：[1]浙江大学医学院,浙江杭州310058 [2]浙江大学医学院附属妇产科医院,浙江杭州310006 [3]复旦大学附属妇产科医院生殖医学科,上海200090 [4]浙江大学医学院生殖遗传教育部重点实验室,浙江杭州310006 [5]上海市胚胎源性疾病重点实验室中国医学科学院胚胎源性疾病研究创新单元,上海200030 [6]复旦大学附属妇产科医院生殖与发育研究所,上海200030

出　　处：《浙江大学学报（医学版）》2024年第3期280-287,共8页Journal of Zhejiang University(Medical Sciences)

基　　金：国家重点研发计划(2021YFC2700603);国家自然科学基金(82088102);上海市协同创新集群项目(2020CXJQ01);上海市生殖与发育前沿科学研究基地;中国医学科学院医学与健康科技创新工程项目(2019-I2M-5-064);上海市申康医院发展中心临床三年行动计划(SHDC2020CR1008A)。

摘　　要：胚胎植入前遗传学检测是辅助生殖过程中的重要环节,可以阻断单基因或染色体疾病的代际间遗传。其中,多基因疾病胚胎植入前遗传学检测(PGT-P)是该领域的最新进展之一。PGT-P在人工智能和遗传检测技术发展的基础上,通过检测遗传物质,计算多基因风险评分,再将其转化为发病概率,可以筛选得到多基因疾病发病概率相对较低的胚胎进行移植,以期降低子代未来患该疾病的可能,具有显著的临床和社会意义。目前,PGT-P在国内外都进行了阶段性的开展并取得了成功的临床实践。与此同时,PGT-P作为一项正在发展的技术仍存在结果不稳定、无法排除环境因素、种族差异影响等技术缺陷;在伦理角度,若不严加规范PGT-P的筛选指征则容易产生新的社会问题。本文主要综述了目前PGT-P的技术组成和最新进展,并对其未来的发展,尤其是如何建立完整且适用于我国人群的筛查模型提出了展望。Preimplantation genetic testing is an important part in assisted reproductive technology,which can block the intergenerational inheritance of a single gene or chromosomal diseases.Preimplantation genetic testing for polygenic disease risk(PGT-P)is one of the latest developments in the field.With the development of artificial intelligence and genetic detection technology,PGT-P can be used to analyze genetic material,calculate polygenic risk scores and convert these into incidence probability.Embryos with relatively low incidence probability can be screened for transfer,in order to reduce the possibility that the offspring suffers from the disease in the future.This has significant clinical and social significance.At present,PGT-P has been applied clinically and made phased progress at home and abroad.But as a developing technology,PGT-P still has some technical limitations as unstable results,environmental influences and racial differences cannot be ruled out.From the ethical perspective,if the screening indications are not strictly regulated,it is likely to cause new social problems.In this paper,we review the technical details and recent progress in PGT-P,and discuss the prospects of its future development,especially how to establish a complete and suitable screening model for Chinese population.

关 键 词：胚胎植入前遗传学检测 多基因疾病 多基因风险评分 综述 

分 类 号：R715[医药卫生—妇产科学]