A research project by Isabella Lindegaard Jørgensen
Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant monogenic forms of diabetes caused by variants in genes involved in the functioning of the pancreatic beta cell. In pregnancy MODY can either be known and diagnosed before pregnancy or if undiagnosed be misdiagnosed as type 1 diabetes, type 2 diabetes or gestational diabetes (GDM). In pregnancies complicated with MODY, both maternal glycemic control and fetal genotype can have significant impact on pregnancy outcome, underlining the importance of a precise diabetes diagnosis. Gene-based precision medicine can be used to identify individuals with genetic MODY variants. In the TRANSLATE project gene-based precision medicine will be offered to 1000 women diagnosed with GDM (www.translate.ku.dk).
In this Ph.D. project we aim to describe the prevalence, maternal, fetal and neonatal outcome in pregnancies complicated with MODY in a 10-year cohort of pregnant women with diagnosed MODY followed at Center for Pregnant Women with Diabetes at Rigshospitalet, and in women initially diagnosed with GDM in the TRANSLATE project. Further, we aim to investigate the social and ethical implications of being diagnosed with MODY during pregnancy using gene-based precision medicine in the TRANSLATE project.