Novel biomarkers in perinatology and infancy

Neurofilament light chain (NfL) is a highly specific biomarker reflecting neuroaxonal damage in a variety of acute and degenerative diseases of the brain. It serves in monitoring disease progression and reflecting efficacy of experimental therapies. With measurements solely available in cerebrospinal fluid (CSF) samples at first, novel analytical methods now made it possible to detect NfL in blood samples, which makes it an easily accessible biomarker that reduces the effort of the invasive and laborious procedure of lumbar puncture and enables serial measurements frequently required in disease monitoring.
This PhD thesis aims to apply NfL in a clinical context other than the main field of interest of neurodegenerative disorders, compare it with other existing biomarkers and to test its sensitivity in order to test its applicability in perinatology and infancy. First, we investigated different biomarkers reflecting neuroaxonal damage, stress and hypertension in a cohort of pregnant women at risk of developing preeclampsia, which is a hypertensive disorder of pregnancy and can affect a variety of organ systems including the maternal brain. With preeclampsia being a leading cause of maternal mortality and morbidity there is great need to recognize and treat this feared disorder timely to prevent long-term sequelae. Second, we compared biomarker levels in the same cohort of pregnant women at risk of developing preeclampsia before and after birth since parturition is known to trigger multisystem changes in maternal physiology. Finally, we examined biomarker levels with special attention to NfL in children presenting at the emergency ward with febrile seizures and compared them in children with epileptic seizures and febrile infections without seizures to verify the benign nature of febrile seizures in infancy.