Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review

Abstract

To conduct a systematic review of the published literature on clinical outcomes following preimplantation genetic testing for monogenic disorders (PGT-M) for hereditary cancer syndromes (HCS). Three electronic databases (PubMed, Cochrane, and EMBASE) were searched for publications related to PGT-M for HCS. When appropriate, weighted means were used to calculate clinical and live birth rates. We identified 22 publications that reported on clinical and/or psychosocial outcomes of PGT-M for HCS. The weighted mean clinical pregnancy rate (CPR) per embryo was 33.5% (11 studies, 95% CI: 29.1%, 38.2%), and the CPR per cycle with embryonic transfer was 40.1% (14 studies, 95% CI: 36.1%, 44.3%). The weighted mean live birth rate (LBR) per embryo was 28.9% (11 studies, 95% CI: 24.7%, 33.4%) and the LBR per cycle with embryonic transfer was 33.2% (13 studies, 95% CI: 29.2%, 37.4%). The limited literature regarding the psychosocial outcomes of PGT-M for HCS suggests reproductive decision-making is difficult and additional support may be desired. These findings suggest that CPR and LBR following PGT-M for HCS are comparable to other monogenic disorders. Heterogeneity across studies suggests the overall CPR and LBR found may not be applicable to all HCS indications and PGT-M methodologies.