Description:
Over the past decade, a significant number of genes related to infertility have been discovered. But for the 1 in 6 people of reproductive age who experience infertility and/or pregnancy loss these discoveries haven’t become a routine part of their clinical care. In this session we will review some key phenotypes associated with monogenic causes of oocyte-factor infertility including oocyte/zygote/embryo maturation arrest and recurrent triploidy, while highlighting a few key genes of iinterest. Finally, we will emphasize the important role of genetic counselling if clinicians are considering testing for these genes.
Objectives
At the end of the session, participants will be able to:
- Identify why pre-test genetic counselling is critical when considering testing for monogenic causes of oocyte-factor infertility.
- Describe OZEMA (oocyte/zygote/embryo maturation arrest) and the phenotypic complexities.
Target Audience: Clinical Geneticists, Genetic Counsellors , Trainees
CanMEDS Roles: Medical Expert (the integrating role), Communicator
Speaker: Meaghan Doyle
Event Timeslots (1)
Day 1
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KC 305 - Meaghan Doyle
