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

Abstract

Objective: 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.

Design: Fluorescence in situ hybridization was applied to PGD cycles for reciprocal translocation carriers.

Setting: University-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.