摘要
【目的】对染色体易位携带者的植入前遗传学诊断(PGD),随机的采用传统荧光原位杂交技术结合卵裂球活检并新鲜周期移植的策略,或单核苷酸多态性微阵列技术结合滋养外胚层活检并冷冻周期移植的策略,对两种策略的诊断结果及妊娠结局进行比较,以选择最佳的诊断策略。【方法】回顾性的分析了2012年4月至2014年6月,染色体易位携带者行PGD的183个周期资料,其中91个FISH-PGD周期采用D3卵裂球活检并新鲜周期移植的策略,记为FISH组、92个SNPPGD周期采用滋养外胚层活检并冷冻周期移植的策略,记为SNP组。将两组方法的诊断结果及妊娠结局进行比较。【结果】SNP组的无胚胎移植周期低于FISH组,差异有统计学意义;诊断正常率SNP组为33.8%,高于FISH组,两者间差异有统计学意义;移植周期临床妊娠率方面,SNP组高于FISH组而早期流产/胎停率则低于FISH组。【结论】SNP-PGD的滋养外胚层活检结合冷冻周期移植的策略有助于获得更好的临床妊娠结局。
[ Objective ] To compare the two kinds of strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation, in order to have a feasible strategy. [Methods] A total of 183 PGD cycles for chromosomal transloeation were performed from April 2012 to June 2014, including 91 FISH-PGD cycles using blastomere biopsy and fresh embryo transfer, called FISH group, and 92 SNP-PGD cycles using blastocyst biopsy and thawed embryo transfer, called SNP group. To compare the diagnosis and clinical outcome with the two kinds of strategy. [Results] In PGD results, the biopsy cycles of no embryo transfer, SNP group were lower than FISH group, there was statistical significance. The normal rate in SNP group was 33.8%, higher than FISH group, there was statistical significance in normal rate. The clinical pregnancy rate per embryo transfer in SNP group was higher than FISH group, yet the misscarrage rate or embryo damage rate was lower than them. [Conclusion] The PGD strategy of applying blastocyst biopsy, SNP, embryo cryopreservation and thawed ET helps to have a better clinical outcome. It may be a promise choice of future PGD treatment for carriers with chromosomal translocation.
出处
《中山大学学报（医学科学版）》
CAS
CSCD
北大核心
2015年第2期251-256,共6页
Journal of Sun Yat-Sen University:Medical Sciences
基金
国家自然科学青年基金(81100472)
国家自然科学基金(81370765)
关键词
染色体易位
植入前遗传学诊断
荧光原位杂交
单核苷酸多态性微阵列技术
chromosomal translocation
preimplantation genetic diagnosis i fluorescence in situ hybridization
single-nucleotidepolymorphism array
