种植前遗传学诊断/筛查周期的临床资料分析

目的 通过回顾性分析种植前遗传学诊断/筛查(PGD/PGS)治疗周期的资料,旨在总结PGD/PGS治疗过程中的特点及规律,为临床提供参考.方法 收集行PGD/ PGS助孕的283对夫妇的309个治疗周期信息,分析病因构成、治疗过程、妊娠结局及新生儿情况.结果 283对夫妇中,因染色体异常行PGD治疗的比例最高,共223例,占 78. 8％;比较应用荧光原位杂交(FISH)、微阵列比较基因组杂交技术(array-CGH)和二代测序技术(NGS)这3种方法的临床资料,结果显示array-CGH组的胚胎活检成功率高于另外两组,差异有统计学意义(P<0. 05);FISH组的正常胚胎率高于array-CGH和NGS组,但胚胎种植率低于这两组,差异均有统计学意义(P<0.05);FISH组临床妊娠率低于NGS组,差异有统计学意义(P<0. 05);不同病因行PGD/PGS临床妊娠率比较,差异均无统计学意义;通过PGD/PGS技术出生子代无出生缺陷,且FISH与array-CGH诊断方法比较,新生儿情况均差异无统计学意义.结论 PGD/PGS技术是治疗遗传病高危患者生育问题的有效措施;FISH、array-CGH和 NGS这3种诊断法均是有效的胚胎诊断方法,但array-CGH法和NGS法的诊断效率较FISH高.

Retrospective analysis of preimplantation genetic diagnosis/screening cycles

Objective To summarize the characteristic and principle during the treatment process of preimplantation genetic diagnosis/screening (PGD/PGS) through analyze the previous PGD/PGS data, and provide a reference for clinical study. Methods A total of 309 PGD/PGS cycles from 283 couples received treatment were retrospectively surveyed. We carried out the analysis in parts of the causes of composition, the procedures of therapy, the outcomes of pregnancy, and the conditions of newborn. Results In 283 couples, 223 couples who account for 78. 8％ of total numbers were suffered chromosome abnormalities, which be the most common causes in PGD/PGS cycles. To compared the clinical data of three groups according to fluorescence in situ hybridization (FISH), array comparative genomic hybridization (array-CGH) and next generation sequencing (NGS) technologies, we found that the successful rate of embryo biopsy in array-CGH was higher than the other groups, which showed significant statistical difference (P＜ 0. 05); In FISH group, the normal embryo rate was higher but the embryo implantation rate was lower than the other two groups, and those comparisons were all exhibited the significant statistical difference (P＜ 0. 05). In aspect of clinical pregnancy rate, FISH group was lower than NGS group, and it showed significant statistical difference (P＜ 0. 05). Whether in different causes from different groups, the comparisons of clinical pregnancy rate displayed no significant statistical differences. The newborns whose parents rely on PGD/ PGS technology were not have birth defects, and the conditions of newborns showed no statistical differences between the FISH and array-CGH groups. Conclusion PGD / PGS is an effective method to treat infertility in high risk patients with genetic disease. FISH, array-CGH and NGS are the effective methods of embryo diagnosis, but the diagnostic efficiency of array-CGH and NGS is higher than that of FISH.