男性染色体复杂平衡易位携带者助孕2例并文献复习  

Two male CCRs carriers with assisted pregnancy and literature review

作　　者：金晨曦 王钰峰 张倩[1,2,3] 李敬 李鸿昌[1,2,3] 颜军昊 JIN Chenxi;WANG Yufeng;ZHANG Qian;LI Jing;LI Hongchang;YAN Junhao(Center for Reproductive Medicine,Cheeloo College of Medicine,Shandong University,Jinan 250001,Shandong,China;Shandong Provincial Clinical Medicine Research Center for Reproductive Health,Shandong University,Jinan 250001,Shandong,China;National Research Center for Assisted Reproductive Technology and Reproductive Genetics,Shandong University,Jinan 250021,Shandong,China)

机构地区：[1]山东大学生殖医学研究中心,山东济南250021 [2]山东省生殖健康临床医学研究中心,山东济南250021 [3]国家辅助生殖与优生工程技术研究中心,山东济南250021

出　　处：《山东大学学报（医学版）》2023年第4期64-70,共7页Journal of Shandong University:Health Sciences

基　　金：国家自然科学基金(82171648,81901556)。

摘　　要：目的探讨男性染色体复杂平衡易位(CCRs)携带者的适宜助孕手段。方法2例男性CCRs携带者通过胚胎植入前染色体重排检测(PGT-SR)助孕,其中1例夫妇同时行携带者筛查。结果2例CCRs携带者夫妇均获得可移植胚胎并生育健康子代。其中1例患者联合携带者筛查技术,移植1枚非携带型胚胎,确保生育携带正常核型的后代。2例携带者夫妇的胚胎整倍体率为8.82%(3/34)。结论PGT-SR可有效帮助CCRs携带者筛选可移植胚胎。携带者筛查技术可进一步筛选非携带型整倍体胚胎,阻断亲代染色体异常向子代的传递。Objective To explore the appropriate means of assisted pregnancy in male complex chromosome rearrangements(CCRs)carriers.Methods Two male CCRs carriers underwent next-generation sequencing(NGS)based preimplantation genetic testing for structural rearrangement(PGT-SR).One of the couples underwent carrier screening to select non-carrier euploidy embryos.Results The two CCRs carrier couples were assisted in pregnancy by PGT-SR(one of them underwent carrier screening at the same time),obtained transferable embryos,and finally gave birth to healthy offspring.The embryo euploidy rate of the two carriers was 8.82%(3/34).Conclusion PGT-SR can effectively help CCRs carriers screen out transplantable euploidy embryos.Carrier screening technology can help carriers to select non-carrier euploidy embryos and block the progeny transmission of chromosomal genetic diseases.

关 键 词：复杂染色体平衡易位 胚胎植入前遗传学检测 携带者筛查 二代测序 

分 类 号：R394.3[医药卫生—医学遗传学]