The Saske Screening Centre for inborn errors of metabolism

The Saske Screening Centre is a laboratory specialized in screening for inborn errors of metabolism. Saske analyses the screening blood samples of all newborn babies in Finland.

It is highly recommended that all newborn babies are screened for inborn errors of metabolism. The purpose of screening is to identify treatable serious congenital disease. About one baby out of every 3000 babies has some screenable disease. Immediate treatment is necessary to prevent the child from becoming permanently impaired or even from dying.

Children with inborn errors of metabolism do not usually have any symptoms at birth. Through screening it is possible to identify an inborn disease in a child and to start treatment in time.

The screening procedure is simple. At the maternity ward or the laboratory, a nurse will obtain a few drops of blood from a small puncture of the skin of the baby’s heel. That sample is analysed to establish if there are signs of an inborn error of metabolism. Sampling is done when the baby is 2 – 5 days (48 – 120 hours) old. In Finland, all screening samples are centrally analyzed at the Saske Screening Centre for inborn errors of metabolism.