罗式易位携带者胚胎植入前遗传学诊断的研究

Preimplantation Genetic Diagnosis for Robertsonian Translocation Carrier

【目的】应用荧光原位杂交 (FISH)技术对罗式易位携带者进行胚胎植入前遗传学诊断。【方法】分别用化学打洞法及机械打洞法对 3例罗式易位t(13q14q)患者的体外受精的胚胎活检 ,用VysisLSI 13q14,TelVysion14q探针对卵裂球进行FISH分析 ,选取正常或平衡的胚胎移植入子宫腔。【结果】 3个周期共获卵 2 3个 ,受精率 79%。活检 14个胚胎 ,其中化学打洞法活检 9个胚胎 ,活检后胚胎继续分裂率 6 7% ;机械打洞法活检 5个胚胎 ,活检后胚胎继续分裂率为 40 %。 2个周期分别有 1个胚胎显示正常或平衡 ,进行移植 ,其中 1例获得妊娠 ,妊娠 2 0周时经羊水细胞核型分析证实为正常。【结论】对罗式易位携带者进行胚胎植入前遗传学诊断 。

To perform preimplanation genetic diagnosis by using dual color fluorescent in situ hybridization (FISH). The chemical and mechanical division methods were used to perform embryo biopsy in 3 cases of Robertsonian translocation t (13q14q). Vysis LSI 13q14 and Tel Vysion 14q probes were used to detect the blastomeres biopsied from the IVF embryos of the patients. FISH analysis was performed to select normal or balanced karyotype embryos , which then were transfered into the uterus. Total of 23 oocytes were retrieved in 3 treatment cycles. Fertilization rate was 79%. 14 embryos were available for embryo biopsy. Among them, 9 embryos were biopsied by chemical division method, with further cleavage rate of 67%; 5 embryos were biopsied by mechanical division method, with further cleavage rate of 40%. Single embryo was diagnosed as normal karyotype or balanced respectively in 2 treatment cycles. Both of them were transfered into the uterus. One clinical normal on going pregnancy was achieved, the diagnosis was confirmed by amniocyte karyotype analysis.[Conclusion] Preimplanation genetic diagnosis can be used to resolve the problem of fertility for Robertsonian Translocation Carriers.