Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to <i>BRCA</i> Pathogenic Variant Carriers?

Abstract

Over the past years, BRCA genes pathogenic variants have been associated to reproductive issues. Indeed, evidence indicate that BRCA-mutated patients are not only at higher risk of developing malignancies, but may also present a reduction of the follicular stockpile. Given these characteristics, BRCA patients may be candidates to fertility preservation (FP) techniques or preimplantation genetic testing (PGT) to avoid the transmission of this inherited situation. Since the success rates of both procedures are highly related to the number of oocytes that could be recovered after ovarian stimulation, predicted by ovarian reserve tests, they are ideally performed before the diagnosis of cancer and its treatment. Despite the specific reproductive challenges related to BRCA status, no international guidelines for the application of PGT and FP in this subgroup of patients is currently available. The present article aims to review the available data regarding BRCA carriers’ ovarian reserve and PGT success rates in oncologic and non-oncologic contexts, to determine the actual indication of PGT and further to improve patients’ care pathway.

Keywords

• <i>BRCA</i> pathogenic variant
• preimplantation genetic testing
• fertility preservation