Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes

ObjectiveTo estimate chromosomal imbalances in preimplantation embryos from reciprocal translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles.DesignFluorescence in situ hybridization was applied to PGD cycles for reciprocal translocation carriers.SettingUniversity-based centers for reproductive medicine.Patient(s)Ten and 24 patients of reciprocal translocation with and without Acro-Ch, respectively.Intervention(s)Fluorescence in situ hybridization in biopsied blastomeres.Main Outcome Measure(s)Estimation of meiotic segregation mode in embryos from translocation carriers.Result(s)The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%).Conclusion(s)This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal translocation carriers for PGD–fluorescence in situ hybridization cycles. To estimate chromosomal imbalances in preimplantation embryos from reciprocal translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles. Fluorescence in situ hybridization was applied to PGD cycles for reciprocal translocation carriers. University-based centers for reproductive medicine. Ten and 24 patients of reciprocal translocation with and without Acro-Ch, respectively. Fluorescence in situ hybridization in biopsied blastomeres. Estimation of meiotic segregation mode in embryos from translocation carriers. The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%). This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal translocation carriers for PGD–fluorescence in situ hybridization cycles.