array CGH和SNP array技术在胚胎植入前遗传学诊断中的应用比较  

Comparison of CGH array and SNP array in preimplantation genetic diagnosis

作　　者：王静[1] 丁晨晖[1] 

机构地区：[1]中山大学附属第一医院生殖医学中心广东省生殖医学重点实验室,广州市510080

出　　处：《实用医学杂志》2015年第17期2822-2826,共5页The Journal of Practical Medicine

基　　金：中山大学青年教师培育计划项目(编号:12ykpy23);广州市科技计划项目(编号:201300000097)

摘　　要：目的:比较两种微阵列技术在不同时期活检及移植时机对染色体易位携带者行胚胎植入前遗传学诊断(PGD)对诊断结果及妊娠结局的影响。方法:对染色体易位携带者行PGD的152个活检周期资料进行回顾性分析,其中60个a CGH-PGD周期采用D3卵裂球活检并新鲜周期移植的策略,92个SNP-PGD周期采用滋养外胚层活检并冷冻周期移植的策略,将两组的诊断结果及妊娠结局进行比较。结果:SNP-PGD与a CGH-PGD在无胚胎移植周期方面无明显差异;在诊断正常率上,SNP-PGD高于a CGH-PGD,两者间差异有统计学意义;移植周期临床妊娠率方面,SNP-PGD高于a CGH-PGD,而早期流产及胎停率则低于后者。结论:采用滋养外胚层活检并冷冻周期移植可能有助于获得较好的妊娠结局。Objective To compare two kinds of strategies of preimplantation genetic diagnosis （PGD） to evaluate embryos for reciprocal and robertsonian translocation carriers. Methods A total of 152 PGD cycles for chromosomal translocation were performed from April 2012 to June 2014, including 60 aCGH-PGD cycles using blastomere biopsy and fresh embryo transfer, and 92 SNP-PGD cycles using blastocyst biopsy and thawed embryo transfer. The diagnosis results and clinical outcome with these two kinds of strategies were compared. Results No significant difference was found in the cycles of no embryo transfer between SNP-PGD and aCGH- PGD. The normal rate in SNP-PGD was 33.8%, which was significant higher than that of aCGH-PGD. The clinical pregnancy rate per embryo transfer in SNP-PGD was higher than that in aCGH-PGD, but the misscarrage rate and embryo damage rate were lower than those in aCGH-PGD. Conclusions The PGD strategy of applying blastocyst biopsy, SNP array, embryo cryopreservation and thawed ET leads to a better clinical outcome. It may be a promising choice for future PGD treatment for carriers with chromosomal translocation.

关 键 词：易位 遗传 植入前遗传学诊断 微阵列技术 

分 类 号：R714.8[医药卫生—妇产科学]