罗伯逊易位携带者胚胎植入前遗传学诊断

Preimplantation genetic diagnosis for Robertsonian translocation carriers with fluorescence in situ hybridization

目的:了解罗伯逊易位携带者进行胚胎植入前遗传学诊断(PGD)的价值。方法:应用荧光原位杂交方法(FISH),采用位点特异探针(LSI)和端粒探针(Tel)对3例罗伯逊易位患者的卵裂球进行PGD分析,并选择正常或平衡胚胎移植入子宫。结果:共进行5个PGD周期,获卵145个,正常受精率81.1%,卵裂率92.5%,优质胚胎率88.9%。5个周期共移植11个胚胎,1例获得妊娠。获妊娠者孕20周后经羊水细胞核型分析,证实为正常/平衡,现已分娩健康婴儿。结论:PGD是罗伯逊易位携带者获得正常后代的有效途径。

Aim： To explore preimplantation genetic diagnosis（PGD） with fluorescence in situ hybridization（FISH） for Robertsonian trauslocation carriers. Methods：PGD was conducted for 3 Robertsonian translocation couples. Vysis LSI and Tel probes were used to detect the blastomeres which biopsied from the embryos of the patients. FISH analysis was performed to select normal or balanced karyotype embryos and then transferred them into uterus. Results： Totally, 145 oocytes were retrieved in 5 PGD cycles. Normal fertilization rate was 81.1%. The cleavage rate and good quality embryo rate were 92.5% and 88.9% respectively; I 1 normal/balanced embryos were transferred in 5 cycles and one clinical normal on-going pregnancy was achieved. The diagnosis was confirmed by amniocyte karyotyping. It was retrieved as the first delivery of PGD in Henan province. Conclusion ： preimplantation genetic diagnosis can be the effective way for Robertsonian translocation carriers to get normal offsprings.