46,XY,t(1;18;9)(p34.1;q12.2;q32)复杂性染色体重排携带者的胚胎植入前遗传学检测

Preimplantation genetic testing of 46,XY,t(1;18;9)(p34.1;q12.2;q32)with complex chromosome rearrangement carrier

目的探讨胚胎植入前遗传学检测(preimplantation genetic testing,PGT)在复杂性染色体重排携带者助孕中的应用。方法应用控制性超促排卵、卵胞质内单精子注射、囊胚活检、二代测序(next generation sequencing,NGS)等方法对1例复杂性染色体重排(complex chromosome rearrangements,CCRs)携带者行PGT助孕。结果该夫妇行1个PGT周期,获卵27枚,共活检囊胚7枚,经NGS示:在检测范围内有3枚正常/平衡囊胚和4枚异常囊胚,解冻移植1枚囊胚后成功妊娠,足月产1男婴,胎儿染色体检查示:46,XY;未携带易位染色体。结论CCRs携带者有高异常配子率、高流产风险。PGT能够筛查胚胎、降低其自然流产风险,是辅助治疗CCRs携带者生育问题的一种策略。

Objective To detect the availability of the preimplantation genetic testing(PGT)in carriers of complex chromosome rearrangements(CCRs)for assisting reproduction.Methods A couple with CCRs was treated by controlled hyperstimulation,intracytoplasmic sperm injection,blastocyst biopsy and next generation sequencing(NGS)for PGT assisting reproduction.Results The couple underwent 1 PGT cycle,27 oocytes were obtained and 7 blastocysts were suitable for biopsy.NGS showed that there were 3 normal/balanced blastocysts and 4 abnormal blastocysts in the detection range.One normal/balanced blastocyst was used in frozen-thawed embryo transfer.Then the pregnancy was successful,and a male child was born at term.The fetal chromosome examination showed 46,XY with normal karyotype.Conclusion CCRs carriers have a high abnormal gamete rate and a high risk of miscarriage.PGT can screen embryos and reduce the risk of spontaneous miscarriage,which is a strategy to assist the treatment of fertility problems in CCRs carriers.