To investigate the effect of autosomal balanced translocation and types on ovarian response in preimplantation genetic diagnosis (PGD)-controlled ovarian stimulation (COS).

A retrospective analysis of 426 cycles of PGD for 379 couples with balanced translocations was performed, female translocation carriers were involved as the study group (group A), including 44 cycles of Robertson translocation (group A1) and 138 cycles of reciprocal translocations (group A2); male translocation carriers were involved as control group (group B), including 65 cycles of Robertson translocation (group B1) and 179 cycles of reciprocal translocations (group B2). The COS parameters were compared between these groups.

The age, body mass index (BMI), basal endocrine (FSH, E₂, LH), antral follicle count (AFC), gonadotropin (Gn) dosage and duration, day 2 (D2) and D3 embryo number, number of blastocysts, egg maturation rate and blastocyst formation rate were not significantly different (P>0.05). In group A, the E₂ level on the day of hCG administration [(5 469.8±2 365.1) ng/L] and the number of oocytes retrieved (1.4±1.4) were significantly lower than those of group B [(6 033.3±2 587.5) ng/L, 1.8±1.8] (P<0.05). The E₂ level on the day of hCG administration and the number of normal blastocysts in group A1 [(5 573.2±2 146.1) ng/L, 1.5±1.5] was lower than those of group B1 [(6 565.0±2 961.1) ng/L, 2.8±2.2] (P<0.05). The number of oocytes retrieved in group A2 (14.6±6.6) was lower than that of group B2 (16.5±6.7) (P<0.05).

1) Autosomal translocations in femal may affect the ovarian response in COS. 2) The rate of forming balanced or normal embryo is lower in female Robertson translocation carriers than males.

Chromosome balance translocation; Controlled ovarian stimulation (COS); Ovarian response; Preimplantation genetic diagnosis (PGD)