论文部分内容阅读
目的建立荧光原位杂交技术对平衡易位携带者的胚胎进行植入前遗传学诊断(FISH-PGD)。方法对1例因男方为t(1q42;4q21)易位携带而妊娠过染色体异常胎儿的不孕夫妇,经激素超促排卵和卵胞浆内单精子注射(ICSI)进行体外受精-胚胎移植(IVF-ET)。于受精后第3天进行胚胎活检及FISH分析,选择FISH结果为正常或平衡易位的囊胚予以冷冻,择期解冻移植。结果活检11个胚胎,均得到FISH结果。其中,对位(正常或平衡易位)胚胎2个(18.18%),邻位-1胚胎5个(45.45%),邻位-2胚胎为0,3∶1分离胚胎3个(27.27%),紊乱型胚胎1个(9.09%)。FISH诊断为正常或平衡易位的2个胚胎发育至第5天,1个形成囊胚冷冻备用移植,1个胚胎退化放弃冷冻。结论建立的FISH-PGD能够有效的选择正常或平衡易位的可移植胚胎,对解决相互易位携带者的生育障碍有重要价值。
Objective To establish a fluorescence in situ hybridization (FISH) technique for preimplantation genetic diagnosis (FISH-PGD) of embryos with balanced translocations. Methods In vitro fertilization - embryo transfer was performed in 1 infertile couple who had a fetus with gestational chromosomal abnormalities carried by the translocation of t (1q42; 4q21) in men, and received hormone hyperstimulation and intracytoplasmic sperm injection (ICSI) IVF-ET). Embryo biopsy and FISH analysis were performed on the third day after fertilization. The blastocysts with normal or balanced translocation of FISH were selected for freezing and elective thawed transplantation. Results All the 11 embryos were biopsied and the FISH results were obtained. Among them, 2 (18.18%) of the normal (normal or balanced translocation) embryos, 5 (45.45%) of the ortho-1 embryos, 0 of the ortho-2 embryos and 3 (27.27% , One disorderly embryo (9.09%). Two embryos diagnosed as normal or balanced translocations by FISH developed to the fifth day, one formed a blastocyst backup and one embryo degenerated to give up freezing. Conclusion The established FISH-PGD can effectively select normal or balanced transplanted embryos, which is of great value in solving the fertility disorders of translocation carriers.