P-124: Genetic evaluation of egg donors: Recipient couple preferences and outcome of testing

Abstract

The purposes of this study are to report the preferences of recipient couples for genetic testing of their egg donor and to examine the results of implementation of a new program for genetic evaluation of donors in our practice. Retrospective cohort analysis. In June 2005, after extensive consultation with genetic counselors, we implemented a new program for genetic evaluation of egg donors. Prior to the medical screening of their donor, each recipient couple was asked to complete a form which outlined genetic testing options for their donor. On this form, it was explained that some genetic evaluation was required for all donors (interview of the donor by a genetic counselor, cystic fibrosis testing, complete blood count (CBC), and hemoglobin electrophoresis). Other tests were recommended for all donors, but not required (Fragile X and karyotype). The couples were also informed that additional testing might be recommended after the donor was interviewed by a genetic counselor. Couples were provided with specific information regarding the nature of the diseases, their frequency, and the costs of testing. They were then asked to accept or decline each test. Couple’s preferences, the results of genetic evaluation, and the impact of these results on the decision to proceed with the donor were recorded. At the time of submission of this abstract, data is available for 39 recipient couples. Of these 39 couples, 24 accepted and 15 declined Fragile X testing, whereas 15 accepted and 24 declined karyotyping. When asked if they would accept additional testing of their donor if recommended by a genetic counselor, 10 said that they would accept additional testing, 20 declined, and 9 said that it would depend on the cost of the test. Fragile X testing was positive in one case and the couple decided not to proceed with this donor. One donor was found to be a carrier for cystic fibrosis, and her recipients decided to proceed with the donor after the intended father was found to not be a carrier. Karyotype was normal in all cases. Additional testing based on family history or ethnicity was recommended by the genetic counselor in 5 cases. One donor tested positive for hemochomatosis, but the couple decided to proceed with this donor after consultation with a genetic counselor and evaluation of the recipient’s husband. Couples vary regarding their preferences for detailed genetic evaluation of their donor. The outcome of this evaluation may alter the couple’s decision to proceed with a donor, and gives the couple additional information to provide to their child.