Genome and epigenome approaches in human assisted reproduction

Fertility treatments, including IVF (in vitro fertilisation) are being used increasingly commonly. Therefore, modifications to these treatments are constantly being sought to improve outcomes, ensure that the increasing demand can be met and to integrate state-of-the art technological advances. This thesis investigated DNA methylation patterns of IVF children who had undergone embryo culture in compositionally different growth media. This was done to try to elucidate the mechanism underlying previously described growth differences between these groups of children. The included studies identified no major DNA methylation differences. In addition, this thesis describes advances in the methodology for preimplantation genetic testing (PGT) - an add-on to IVF treatments that gives couples with known heritable genetic disorders the option of preventing these from being passed on to their children. The described methods, a so called “embryo tracking system” and whole genome sequencing (WGS)-based PGT, were shown to improve the safety, scalability and availability of PGT by means of a simplified workflow and the production of more comprehensive and reliable data.