PhD defence Rick Essers

Keywords: Pregnancy loss, Chromosomal abnormalities, Preimplantation genetic testing (PGT), Haplotyping

"Unravelling the Genomic Landscape of Early Embryogenesis"

Many early human embryos carry chromosomal abnormalities, which are a major cause of failed implantation and miscarriage. Remarkably, some embryos with such abnormalities can still develop into healthy babies, suggesting that the early embryo has ways to repair or compensate for these errors. This thesis explores the genomic landscape of early embryo development and pregnancy loss to better understand how these processes occur. By studying tissues that represent different parts of the early embryo, new insights were gained into how chromosomal errors arise and, in some cases, self-correct. These findings are also relevant for in vitro fertilization (IVF), where genetic testing is used to select embryos for transfer. Understanding which chromosomal abnormalities can be overcome may help refine embryo selection and increase the chances of a healthy pregnancy.

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