摘要
目的讨论基于二代测序(NGS)的胚胎植入前遗传学检测(PGT)在三方重排复杂染色体易位携带者助孕中的应用。方法应用卵胞质内单精子显微注射、单细胞基因扩增、NGS等方法对2例三方重排复杂染色体易位携带者夫妇行PGT助孕。结果2对夫妇中男方均为三方重排复杂染色体易位,共进行了3个PGT周期。例1夫妇获卵10枚,第3日(D3)胚胎共4枚,第5/6日(D5/6)形成了3枚囊胚,活检2枚囊胚,经过NGS检测,诊断异常的胚胎1枚,诊断正常/平衡的胚胎1枚,解冻移植后未临床妊娠。例2夫妇进行了2个周期PGT,第1周期获卵11枚,D3胚胎共6枚,D5/6形成了5枚囊胚,活检囊胚4枚,第2周期获卵14枚,D3胚胎共6枚,D5/6形成了3枚囊胚,活检囊胚3枚,经过NGS检测,第1周期4枚胚胎诊断异常,第2周期1枚胚胎诊断异常,诊断正常/平衡的胚胎2枚,解冻移植1枚囊胚后临床妊娠成功。于孕16周羊水穿刺G显带提示为46,XN,t(8,13,10)(q21;q31;p15),孕40周活产一健康男婴。结论虽然复杂染色体重排携带者夫妇正常胚胎的概率很低,但NGS-PGT是其降低流产率、获得有血缘关系的后代的重要方法。
Objective To detect the availability of the preimplantation genetic testing(PGT)based on next generation sequencing(NGS)in three-way complex chromosome rearrangements for assisting reproduction.Methods Two couples with three-way complex chromosome rearrangements were treated by intracytoplasmic sperm injection,single-cell gene amplification,NGS for assisting reproduction.Results The male partners were the three-way complex chromosome rearrangements carriers,and a total of 3 PGT cycles were performed.In case 1,10 oocytes were obtained in the only PGT cycle and 4 embryos were formed on day 3.And 3 blastocysts were formed on day 5/6,and 2 blastocysts were suitable for biopsy.After NGS,1 blastocyst was diagnosed as abnormal,and 1 blastocyst was diagnosed as normal/balanced,which was used in frozen-thawed embryo transfer.The outcome was unpregnancy.In case 2,25 oocytes were obtained in two PGT cycles and 8 embryos were formed on day 3.And 8 blastocysts were formed in day 5/6,and 7 blastocysts were suitable for biopsy.After NGS,all of 4 blastocysts were diagnosed as abnormal in the first cycle,and 1 blastocyst was diagnosed as abnormal,and 2 blastocysts were diagnosed as normal/balanced in the second cycle.One of the 2 normal/balanced blastocysts was used in frozen-thawed embryo transfer.Fortunately,the outcome was clinical pregnant.The prenatal diagnosis that used G-band and SNP array analysis at 16 weeks of pregnancy showed 46,XN,and a healthy baby was born at full-term normal delivery.Conclusion Although the probability of normal embryos in couples with CCRs is very low,PGT based on NGS is an important method to reduce the miscarriage rate and obtain related offspring.
作者
李刚
石维一
徐家伟
牛文彬
金海霞
苏迎春
郭艺红
孙莹璞
Li Gang;Shi Weiyi;Xu Jiawei;Niu Wenbin;Jin Haixia;Su Yingchun;Guo Yihong;Sun Yingpu(Reproductive Medical Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中华生殖与避孕杂志》
CAS
CSCD
北大核心
2020年第5期418-422,共5页
Chinese Journal of Reproduction and Contraception
基金
国家自然科学基金(81771534、81701443)
河南省科技攻关计划(172102310082)
河南省高等学校重点科研项目计划(18A320057)
中华医学会生殖医学青年医师研究与发展项目(18010240753)。
关键词
复杂染色体重排
胚胎植入前遗传学检测
生殖技术
辅助
Complex chromosome rearrangements
Preimplantation genetic testing
Reproductive technique,assisted
