Does the prognosis after PGT for structural rearrangement differ between female and male translocation carriers?

Abstract

Chromosomal translocations are known genetic causes of premature ovarian insufficiency syndrome. Are certain translocations associated with decreased capacity of small antral follicles to respond to exogenous FSH? Does the prognosis after preimplantation genetic testing for structural rearrangements differ in couples with female or male translocation carriers and according to the type of translocation? A single-centre, retrospective, observational study covering a 10-year period. One hundred and thirty-nine females carrying a translocation were compared with 192 partners of male translocation carriers. To evaluate ovarian response to FSH, the follicular output rate was used, defined by ratio between the pre-ovulatory follicle count on day of HCG x 100/antral follicle count (AFC). To determine a cut-off of metaphase II oocytes and biopsied embryos as predictor of obtaining a balanced embryo transfer, receiver operator characteristic curves were plotted. A decreased capacity of small antral follicles to respond to exogenous FSH in female translocation carriers was found. The number of metaphase II oocytes in both groups was weakly informative as a predictor of obtaining an embryo transfer. The number of biopsied embryos had some clinical value, however, and allowed a cut-off of 6.5 to be determined for female translocation carriers versus 5.5 for the partners of male translocation carriers. Live birth rates, however, were not different between female and male translocations carriers. Female translocation carriers may respond poorly to ovarian stimulation, and present a higher rate of unbalanced embryos, which means that higher gonadotrophin doses may be required to increase the number of biopsied embryos.