CAJ | 학술논문

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aCGH-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aCGH-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aCGH-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aCGH-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。
목적：비교량충미진렬기술재불동시기활검급이식시궤대염색체역위휴대자행배태식입전유전학진단（PGD）대진단결과급임신결국적영향。방법：대염색체역위휴대자행PGD적152개활검주기자료진행회고성분석，기중60개aCGH-PGD주기채용D3란렬구활검병신선주기이식적책략，92개SNP-PGD주기채용자양외배층활검병냉동주기이식적책략，장량조적진단결과급임신결국진행비교。결과：SNP-PGD여aCGH-PGD재무배태이식주기방면무명현차이；재진단정상솔상，SNP-PGD고우aCGH-PGD，량자간차이유통계학의의；이식주기림상임신솔방면，SNP-PGD고우aCGH-PGD，이조기유산급태정솔칙저우후자。결론：채용자양외배층활검병냉동주기이식가능유조우획득교호적임신결국。
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.