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。

abstractsObjective: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.