Genetic matching between recipients and oocyte donors

The aim of this paper is to describe the implementation of an extended carrier screening in our oocyte donation programme with the objective of reducing the risk of transmission of recessive genetic diseases. The panel used was qCarrier test, an NGS expanded carrier screening (ECS) that included 200 genes (68 with complete sequencing of the coding region and 132 targeting known mutations) associated with 277 autosomal recessive and 37 X-linked diseases. The ECS was performed to most oocyte candidate donors and the male partner recipients, since November 2013. Donors who were carriers for X-linked conditions were excluded from the programme, while carriers for autosomal recessive conditions were not excluded, but the information was considered in the genetic-matching process. The definitive matching was done only when genetic results were available, taking into account that donor and recipient were not carrying mutations for the same gene/disease. Genetic counselling at different stages of the process was considered essential in order to achieve the purposes of incorporating the test and giving appropriated information and counselling before and after genetic testing. The implementation of the ECS in our gamete donation programme exceeded 80% and identified 56% of donors and recipients that were carriers for at least one of the genetic conditions included in the test. Approximately 2% of female donors was excluded from the donation programme due to a carrier state of X-linked conditions, and 3.5% of assigned donations with a high reproductive risk was identified. The use of an NGS carrier screening for both donors and recipients proved to be a very useful tool to reduce the risk of transmission of genetic conditions in children born from the oocyte donation programme.