【摘要】 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 15 8个 ,对其中 5 4个胚胎进行活检 ,5 1个胚胎获得明确诊断 ,诊断率为94 % (5 1/ 5 4 )。对染色体组成正常或平衡的 2 4个胚胎进行宫腔内移植 ,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技术进行植入前胚胎染色体诊断 ,是预防流产和染色体异常患儿出生的有效手段。更多还原

【Abstract】 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.更多还原