植入前遗传学筛查用于几种适应症的效率初探

Efficiency of preimplantation genetic screening in applying to different indications

目的探讨植入前遗传学筛查(PGS)用于染色体异常、反复种植失败和反复自然流产患者的效率。方法回顾性研究2015年1月到2016年3月在我中心行PGS治疗,共328个取卵周期和随后进行的263个冻胚移植周期,根据其适应症分为男方染色体异常(A组)、女方染色体异常(B组)、反复种植失败(C组)和反复自然流产(D组),分析4组患者的体外受精-胚胎发育情况、胚胎单核苷酸多态性(SNP)检测分析结果和临床结局。结果 4组患者成熟卵母细胞(MII)率、受精率、卵裂率、D3有效胚胎率均无统计学差异(P>0.05);获卵数在A组(12.93±5.73)、B组(13.17±6.65)显著高于C组(10.48±6.07)、D组(10.76±5.47),D组可进行PGS活检的胚胎数与D3有效胚胎数的比率(57.2%)显著高于A组(51.3%)、B组(48.4%)和C组(50.0%)(P均<0.05);正常核型胚胎比率C组(71.6%)、D组(58.7%)显著高于A组(39.0%)、B组(33.5%),而无可移植正常核型胚胎的周期率D组(13.5%)显著低于A组(31.3%)、B组(33.3%)、C组(29.1%)(P均<0.05);4组患者的妊娠率和流产率均无统计学差异(P>0.05)。结论三种适应症的患者实施PGS均能达到满意的临床妊娠率;夫妇染色体异常的患者最终获得正常核型胚胎的几率较低,但是有效避免了高流产率的风险;反复自然流产的患者经PGS筛选后胚胎移植可将流产率控制在较低水平(3.4%)。

Objective： To explore the efficiency of preimplantation genetic screening （PGS）in applying to the patients with chromosome abnormality, recurrent implantation failure （RIF）, and recurrent spontaneous abortion （RSA）. Methods： A total of 328 PGS treatment cycles and 263 subsequent frozen embryo transfer （FET） cycles in our reproductive center from Jan. 2015 to Mar. 2016 were included in this study. The patients were divided into four groups according to different indications： group A with patients of husband＇s chromosome abnormality,group B with patients of wife＇s chromosome abnormality,group C with patients of RIF,and group D with patients of RSA. The basic information, the clinical outcomes including in vitro fertilization and embryo development, single nucleotide polymorphism （SNP） results and clinical outcome of FET cycles were analyzed among the four groups. Results： There were no differences in ooeyte MII rate,fertilization rate, cleavage rate, usable embryo rate on Day 3 among the four groups （P〉0.05）. The number of oocytes retrieved in group A （12.93±5.73） or in group B （13.17±6.65） were significantly higher than that in group C （10.48±6.07） or group D （10.76±5.47）. The ratio of the number of blastoeysts available for PGS and the number of usable embryos on Day 3 in group D （57.2%） was significantly higher than that in group A （51.3%）,group B （48.4%） or group C （50.0%） （all P〈0.05）. The rates of normal karyotype embryo in group C （71.6%） and group D （58.7%） were significantly higher than that of group A （39.0%） and group B （33.5%）. The rate of cycles with no normal karyotype embryos for transplantation in group D （13.5%） was significantly lower than that in group A （31.3%）,group B （33.3%） or group C （29.1%） （all P〈0.05）. The clinical outcomes including clinical pregnancy rate and abortion rate were not significantly different among the four groups （P〉0.05）. Conclusions： The patients with the three different indications can get satisfactory clinical outcomes by PGS. The couples with chromosome abnormality have lower probability to obtain normal karyotype embryos,hut are effective in avoiding the risk of high abortion rate. The abortion rate of patients with RSA can be controlled at a low level （3.4%） by means of PGS technique.