MaReCs技术在胚胎植入前染色体结构异常遗传学检测周期中的应用研究

Application of marecs technique in the genetic detection cycle of chromosome structural abnormalities before embryo implantation

目的探讨等位基因映射识别胚胎易位携带状态(MaReCs)技术在胚胎植入前染色体结构异常遗传学检测(PGT-SR)周期中的应用价值。方法选取2019年1月至2021年9月该中心平衡易位和罗氏易位患者49例,共有49个PGT-SR周期,分为RobT组(罗氏易位,17例)和RecT组(平衡易位,32例),比较2组胚胎培养情况、PGT-SR与MaReCs检测结果、移植结局。将RecT组中成功进行MaReCs检测的和成功构建单体型但因没有整倍体胚胎而无法进行MaReCs检测的患者进一步分为RecT_T亚组和RecT_F亚组,比较2亚组相关指标。结果RobT组和RecT组胚胎培养情况比较,差异无统计学意义(P>0.05)。RobT组中,12例要求进行MaReCs检测,其中11例成功进行了MaReCs检测,整倍体率为71.21%,胚胎易位携带率为53.19%;RecT组中,23例要求进行MaReCs检测,其中12例成功进行了MaReCs检测,整倍体率为34.38%,胚胎易位携带率为45.45%。RecT_T亚组和RecT_F亚组年龄、抗苗勒管激素、窦卵泡数及D0获卵总数比较,差异无统计学意义(P>0.05),但形成囊胚数及活检囊胚数比较,差异有统计学意义(P<0.05)。RobT组中,8例顺利分娩,1例妊娠。RecT组中,9例顺利分娩,1例流产。结论MaReCs检测是一种高效、灵活的识别胚胎易位染色体携带状态的方法,可彻底阻断易位染色体在家族中的传递。

Objective To explore the application value of mapping allele with resolved carrier state(MaReCs)technology in the preimplantation genetic testing for structural chromosomal rearrangements(PGT-SR)cycle.Methods From January 2019 to September 2021,49 cases of balanced translocation and Roche translocation carriers in the center were selected.There were 49 PGT-SR cycles,which were divided in-to RobT group(17 cases of Roche translocation)and RecT group(32 cases of balanced translocation).The em-bryo culture,PGT-SR and MaReCs test results and transplantation outcome were compared between the two group.The patients in the RecT group who successfully performed MaReCs detection and successfully con-structed haplotype but could not perform MaReCs detection due to lack of euploid embryos were further divid-ed into RecT_T subgroup and RecT_F subgroup,and the related indexes of the two subgroups were com-pared.Results There was no significant difference in embryo culture between the RobT group and the RecT group(P>0.05).In the RobT group,12 cases required MaReCs detection,of which 11 cases successfully per-formed MaReCs detection,the euploid rate was 71.21%,and the embryo translocation carrier rate was 53.19%.In RecT group,23 cases required MaReCs detection,of which 12 cases successfully performed MaReCs detection,the euploid rate was 34.38%,and the embryo translocation carrier rate was 45.45%.There were no significant differences between the RecT_T subgroup and the RecT_F subgroup in age,AMH,AFC and total number of D0 oocytes retrieved(P>0.05),but there were significant differences in the number of blastocysts formed and the number of blastocysts biopsied(P<0.05).In the RobT group,8 cases delivered successfully and 1 case was pregnant.In the RecT group,9 cases delivered successfully and 1 case aborted.Conclusion MaReCs detection is an efficient and flexible method to identify the carrying status of embryo translocation chromosomes,which can completely block the transmission of translocation chromosomes in the family.