Preimplantation Genetic Diagnosis for Robertsonian Translocation Carrier / 中山大学学报(医学科学版)

ABSTRACT

【Objective】To perform preimplanation genetic diagnosis by using dual color fluorescent in-situ hybridization (FISH).【Methods】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.【Results】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.