BRCA Mutation Carriers Have the Same Pregnancy Rate as Other Autosomal Dominant Disease Carriers in PGD

Introduction:

Deleterious mutations in BRCA1/2 are risk factors, mostly for breast and ovarian cancer. Some of the BRCA carriers choose to eliminate the lifetime predisposition to cancer to their offspring using preimplantation genetic diagnosis (PGD). It is still unknown whether ovarian function, oocyte yield, and PGD results are reduced in these carriers in comparison to non-carrier population.

Aim:

To compare PGD outcome between BRCA carriers and patients with other autosomal dominant (AD) diseases, mostly in terms of ovarian response, implantation rate and livebirth rate.

Methods:

We compared retrospectively the outcome of first PGD cycle of BRCA carriers to PGD outcomes of couples with other autosomal dominant diseases at Hadassah Medical Center between May 2007 to May 2017. Data collected included patient characteristics, IVF cycle and embryological characteristic and clinical results.

Results:

Twelve couples underwent their first IVF-PGD for BRCA. The control group included 20 couples that underwent first IVF-PGD cycle for other AD diseases. Both groups had comparable ovarian stimulation protocols as shown by similar peak E2, number of oocytes aspirated and no. of mature oocytes. No difference was shown in the number of embryos. Although higher pregnancy rate (50% and 37.5% respectively, p=0.56) and higher live birth rate in the BRCA group (37.5 and 25% respectively, p=0.53) both didn`t reach significance.

Conclutions:

According to our cohort, ovarian response and PGD outcomes for BRCA carriers is as good as the response of patients undergoing IVF-PGD for other autosomal dominant mutations. We did not find a deleterious effect of the carrier state on their ovarian function.