胚胎植入前遗传学诊断10个周期的临床分析

目的:初步探讨使用荧光原位杂交(FISH)方法对染色体异常患者进行胚胎植入前遗传学诊断(PGD)的临床意义。方法:7对不孕夫妇采用长方案控制性超排和卵胞浆内单精子注射,受精后d3胚胎活检、卵裂球固定和FISH,d4或d5择合适胚胎移植。结果:7对夫妇共进行10个PGD周期。获卵251个,可供活检胚胎133个,活检卵裂球207个,胚胎活检成功率为96.2%(128/133)。128个成功活检胚胎的197个卵裂球,其单细胞固定率为93.9%(185/197),FISH信号率为90.8%(168/185)。10个周期共移植22个胚胎,3例获得妊娠,并均足月分娩健康婴儿,其中1例孕妇平衡易位携带者于孕中期时,羊水核型分析为平衡易位携带者。结论:应用FISH方法进行PGD,是遗传病高危夫妇预防流产和染色体异常患儿出生的有效手段。

Clinical Analysis of Preimplantation Genetic Diagnosis of Chromosome Abnormality by Fluorescence in situ Hybridization

Objective: To evaluate the clinical use of preimplantation genetic diagnosis(PGD) for the couples having higher risk of genetic diseases with fluorescence in situ hybridization(FISH). Methods: A total of 7 couples were present for PGD. Ovarian hyperstimulation,oocyte pick-up and ICSI were performed in 10 cycles (7 couples). Blastomere biopsy was performed in the embryos at the 6-8-cell stage. Genetic diagnosis was identified by single blastomere FISH and normal or balanced embryos were transferred into uterus on d 4 or d 5. Results: A total of 10 PGD cycles yielded 251 oocytes. The rate of successful biopsy,fixation and the rate of adequate signal of FISH were 96.2%,93.9% and 90.8%,respectively. A total of 22 embryos were transferred and 3 clinical pregnancies were achieved. As a result,3 healthy infants have been born. Conclusion: PGD is valuable for avoiding selective abortion and birth of affected offspring of the couples having higher risk of genetic diseases using FISH.