To analyze and compare the effects of preimplantation genetic diagnosis (PGD) on embryonic development and reproductive outcomes in robertsonian and reciprocal translocation carriers of different gender respectively.

One hundred and twenty-two chromosomal translocation cycles (a total of 105 couples) assisted by PGD were retrospectively analyzed. They were divided into robertsonian translocation group and reciprocal translocation group, and each group was divided into male and female subgroups according to the chromosome type and carrier’s gender. The clinical characteristics, embryo development and reproductive outcomes after thawing and transfer were then analyzed and compared.

The normal rate of biopsy results in female subgroup (22.8%) in robertsonian translocation carriers was lower than that in male subgroup (35.3%) (P=0.048), the fertilization rate in female subgroup (78.8%) in reciprocal translocation carriers was lower than that in male subgroup (83.8%, P=0.038), while the clinical pregnancy rate per embryo transfer (ET) (69.0%) was higher than that in male subgroup (41.9%, P=0.035). The M_II oocyte rate in robertsonian translocation group (88.4%) was higher than that in reciprocal translocation group (83.9%, P=0.008). Especially in male translocation carriers, the frequencies of M_II oocyte (90.3%), normal embryos (35.3%) and the clinical pregnancy rate per oocytes pick-up (OPU) (64.7%) in robertsonian translocation group were significantly higher than those in reciprocal translocation group (85.0%, P=0.036; 21.9%, P=0.018; 31.7%, P=0.02, respectively).

There is no significant effect of different gender on embryo development and pregnancy outcome of chromosomal translocation carriers. In male carriers, robertsonian translocation carriers have better pregnancy outcomes compared with reciprocal translocation carriers.

Preimplantation genetic diagnosis; Robertsonian translocation; Reciprocal translocation; Gender; Pregnancy outcome