Great Expectations: informed choices in chronic kidney disease, genetics and pregnancy

Chronic kidney disease and pregnancy are not a rare combination. In the Netherlands, approximately 4.5% of women aged 20 to 44 have a form of chronic kidney disease. Among a subset of these patients who develop kidney failure under the age of 50, around 20% have a hereditary kidney disease. Many of these women have questions about pregnancy: What does it mean for their own health? What are the risks for their baby? And what are the chances of passing on the disease? Pregnancy in women with kidney disease carries increased risks, such as high blood pressure, preeclampsia, and preterm birth. For a long time, the exact risks and long-term impact of pregnancy on maternal kidney function remained unclear. This thesis provides answers. It shows that pregnancy is often possible, even after a kidney transplant. The better the kidney function before pregnancy, the better the outcomes for both mother and child. Furthermore, this thesis highlights that understanding pregnancy outcomes for specific kidney diseases—even down to the precise hereditary type—helps in predicting risks more accurately and providing women with more tailored counseling. Both men and women with hereditary kidney disease should be well-informed about their reproductive options, including embryo selection to prevent passing on the disease, as well as the importance of follow-up care for children at risk. Providing this information in a timely and personalized manner by healthcare professionals with expertise in this field, such as clinical geneticists, gynecologists, and nephrologists, helps patients make informed reproductive decisions. Finally, this dissertation provides recommendations to improve access to genetic diagnostics across Europe, ensuring that individuals with hereditary kidney diseases receive the right care, regardless of where they live.