应用荧光原位杂交技术进行植入前胚胎染色体诊断的价值

目的 初步探讨应用荧光原位杂交(FISH)技术进行植入前胚胎染色体诊断的价值。方法 对10对不孕夫妇进行植入前遗传学诊断(PGD)周期的超促排卵和卵母细胞浆内单精子注射,于受精后第3天进行胚胎活检及FISH分析,第4天选择染色体组成正常或平衡的胚胎进行移植。结果 10个PGD周期共获卵158个,对其中54个胚胎进行活检,51个胚胎获得明确诊断,诊断率为94％(51／54)。对染色体组成正常或平衡的24个胚胎进行官腔内移植,共4例获得妊娠,其中3例已足月分娩健康婴儿,1例为异位妊娠。结论 应用FISH技术进行植人前胚胎染色体诊断,是预防流产和染色体异常患儿出生的有效手段。

Preimplantation genetic diagnosis of chromosome abnormality by fluorescence in-situ hybridization

Objective To perform preimplantation genetic diagnosis (PGD) of chromosome abnormality using fluorescence in-situ hybridization (FISH). Methods Ten couples were presented for preimplantation genetic diagnosis. They had a total of 10 oocyte pick-up cycles. The collected oocytes were inseminated by intracytoplasmic sperm injection. PGD was carried out using cleavage-stage (day 3) embryo biopsy, fluorescence in-situ hybridization, and day 4 embryo transfer. Results Ten oocyte pick-up cycles yielded 158 oocytes. Among the 94 embryos obtained, 54 embryos were biopsied and FISH analyses were performed for 51 blastomeres. Twenty-four embryos were transferred on the fourth day. There were 4 clinical pregnancies: 3 infants have been born,and 1 couple had ectopic pregnancy. Conclusion PGD is a valuable method to prevent the high risk of spontaneous miscarriages and conceiving chromosomally unbalanced offspring.