Newborn screening for rare inborn diseases

An estimated one in three thousand babies has some treatable condition that can be detected by this screening. In Finland too, several children benefit from newborn screening every year.

Early detection of the diseases screened for is important, because early treatment can prevent severe permanent disability or even the death of the child. Screening allows these diseases to be diagnosed in time, as patients are usually asymptomatic in the newborn period.

Participation in screening is simple. In the maternity ward or at a laboratory sampling point, a few drops of blood are taken from the baby's heel to look for early signs of these rare disorders. The sample is taken when the baby is 2-5 days old.

Screening samples from all babies born in Finland are analysed centrally at Saske, Newborn Screening Centre for Inborn Errors of Metabolism.