Newborn screening for rare inborn diseasesKeywords:
Screening for rare inborn diseases is recommended for all newborn babies. The aim of the screening is to identify serious congenital diseases whose harm can be prevented by early treatment.
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.
Read more about the Saske screening centre and newborn screening
Newborn screening helps prevent the harm of certain treatable congenital diseases. Screening and early diagnosis can save the lives of babies with these diseases.
Newborn Screening Centre for Inborn Errors of Metabolism (Saske)
The Saske screening centre is a laboratory specialised in newborn screening for rare inborn diseases. Screening samples from all babies born in Finland are…