心血管系统单基因病胚胎着床前遗传学检测  

Preimplantation Genetic Testing to Prevent the Transmission for Monogenic Diseases of the Cardiovascular System

作　　者：王玉倩 乔杰[1,2,3,4] WANG Yu-qian;QIAO Jie(Obstetrics and Gynecology Reproductive Medicine Center of the Third Hospital of Peking University,Beijing 100191,China)

机构地区：[1]北京大学第三医院妇产科生殖医学中心,北京市100191 [2]国家妇产疾病临床医学研究中心 [3]中华医学会 [4]中国女医师协会

出　　处：《中国分子心脏病学杂志》2021年第5期4153-4157,共5页Molecular Cardiology of China

摘　　要：心血管疾病是全世界发病率和死亡率最高的疾病之一,其中单基因遗传性心血管疾病是由单个基因突变引起的遗传性疾病,目前已知的达百余种。许多单基因心血管遗传病具有较高的猝死风险,发病后严重影响患者生存质量,并且部分疾病无有效治疗手段。单基因心血管疾病的遗传阻断是预防疾病发生、阻断疾病向下一代传递的重要预防手段,其中单基因病胚胎着床前遗传学检测(PGT-M)因能够避免产前诊断终止妊娠给孕妇及家庭带来的痛苦和负担得到广泛的应用,成为心血管单基因病遗传阻断的重要措施。Cardiovascular disease is one of the diseases with the highest rates of morbidity and mortality worldwide.Over one hundred monogenic hereditary cardiovascular diseases have been identified.These genetic cardiovascular diseases appear with high risk of sudden death and few effective treatments,and seriously threaten life quality of patients after the onset of disease.Genetic blocking is an essential strategy for patients with monogenic cardiovascular diseases to prevent the transmission of gene defects to the next generation.Comparing to prenatal diagnosis,preimplantation genetic testing for monogenic/single-gene defects(PGT-M)is to avoid elective termination of pregnancy in the second trimester.Nowadays,PGT-M has become an increasingly acceptable procedure and has been widely applied for genetically highrisk couples with cardiovascular monogenic disorders.

关 键 词：心血管病 单基因病 胚胎着床前遗传学诊断 辅助生殖技术 致病变异 

分 类 号：R54[医药卫生—心血管疾病]