[Analysis of clinical outcomes of different embryo stage biopsy in array comparative genomic hybridization based preimplantation genetic diagnosis and screening].

Objective: To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. Methods: The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles. Chromosomal analysis was performed by array-CGH technology combined with whole genome amplification. Single embryo transfer was performed in all transfer cycles. Live birth rate was calculated as the main clinical outcomes. Results: The embryo diagnosis rate of PGD/PGS by array-CGH were 96.9%-99.1%. In PGD biopsy cycles, the live birth rate per embryo transfer cycle and live birth rate per embryo biopsy cycle were 50.0%(58/116) and 37.2%(58/156) in cleavage-stage-biopsy group, 67.5%(85/126) and 51.8%(85/164) in trophectoderm-biopsy group (both P<0.01). In PGS biopsy cycles, the live birth rate per embryo transfer cycle and live birth rate per embryo biopsy cycle were the same as 34.8%(8/23) in cleavage-stage-biopsy group, the same as 42.1%(16/38) in trophectoderm-biopsy group (both P>0.05). Conclusions: High diagnosis rate and idea live birth rate are achieved in PGD/PGS cycles based on array-CGH technology. The live birth rate of trophectoderm-biopsy group is significantly higher than that of cleavage-stage-biopsy group in PGD cycles; the efficiency of trophectoderm-biopsy is better.目的： 探讨微阵列比较基因组杂交（array-CGH）技术在胚胎植入前遗传学诊断或胚胎植入前遗传学筛查（PGD/PGS）中的应用效果及不同胚胎阶段活检的临床结局的差异。 方法： 回顾性分析2011年7月至2015年8月在南京医科大学第一附属医院进行PGD/PGS治疗的381个周期，其中，PGD 320个周期，采用卵裂期活检156个周期、囊胚期活检164个周期；PGS 61个周期，采用卵裂期活检23个周期、囊胚期活检38个周期。活检标本采用单细胞全基因组扩增结合array-CGH技术行染色体拷贝数分析。所有移植周期均采用单胚胎移植，以活产率作为主要临床结局的评价指标。 结果： array-CGH技术在PGD/PGS中的明确诊断胚胎比例达96.9%~99.1%。PGD活检周期中，卵裂期活检的每移植周期活产率和每活检周期活产率分别为50.0%（58/116）、37.2%（58/156），而囊胚期活检者分别为67.5%（85/126）、51.8%（85/164），分别比较，差异均有统计学意义（P均<0.01）。PGS活检周期中，卵裂期活检的每移植周期活产率和每活检周期活产率均为34.8%（8/23），而囊胚期活检者均为42.1%（16/38），分别比较，差异均无统计学意义（P均>0.05）。 结论： array-CGH技术在PGD/PGS中的应用具有高诊断率，基于array-CGH技术的PGD/PGS可获得理想的临床活产率。在PGD周期中，囊胚期活检比卵裂期活检具有更高的活产率。.