Screening for rare congenital diseases is recommended for all newborns. The goal is to detect serious congenital metabolic and immunodeficiency disorders for which preventive treatment is available. Early identification of these conditions is crucial so that treatment can begin as soon as possible.
Screening enables early detection of diseases, as newborns are often asymptomatic.
A few drops of blood are collected from the baby’s heel using a small skin prick to obtain a dried blood spot sample, which is analyzed for early signs of disease. The sample is taken either in the maternity ward or at a laboratory sampling unit when the baby is 2–5 days old. The sampling is safe for the baby.
Parental consent is required for the screening.