Does the prognosis of PGT-SR differ in female translocation carriers compare to male carriers? A lesson learned from 331 couples

ABSTRACT Research question 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 prognostic of PGT-SR differ in female translocation carriers? Design This is a monocentric 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, we used the follicular output rate (FORT), defined by ratio between the pre ovulatory follicle count (PFC) on day of hCG x 100 / antral follicle count (AFC). In an effort to determine a cut-off of metaphase II oocytes and biopsied embryos as predictor of obtaining a balanced embryo transfer, we performed ROC curves. Result We found a decreased capacity of small antral follicles to respond to exogenous FSH in female translocation carriers. The number of metaphase II oocytes in both groups was weakly informative as a predictor of obtaining an ET. On the contrary the number of biopsied embryos had some clinical value and allowed to determine a cut-off of 6.5 for female translocation carriers versus 5.5 for the partners of male translocation carriers. Conclusions Female translocation carriers may respond poorly to COH and present a higher rate of unbalanced embryos, which means that a higher gonadotropins dose may be used safely in an attempt to increase the number of biopsied embryos.