Newborn screening

Why are newborns tested?
The likelihood of a newborn having a hereditary or congenital condition is around 3–4%. Some of these conditions are inherited metabolic disorders, where a genetic defect affects the production, breakdown, or function of certain proteins, sugars, fatty acids, or other chemicals in the body, potentially causing health or developmental problems. Many of these conditions can be treated if diagnosed early.

To identify babies who need treatment as soon as possible, newborn screening is carried out in many developed countries. Until the end of 2014, screening in Estonia covered only phenylketonuria and congenital hypothyroidism. From 1 January 2015, the programme was expanded, and newborns in Estonia are now screened for 20 treatable conditions.

These include disorders that can cause permanent damage to the nervous system if diagnosed late, as well as conditions affecting other organ systems. The national screening programme includes congenital hypothyroidism, amino acid metabolism disorders, organic acidurias and fatty acid metabolism disorders. Screening is offered to all newborns and is safe for the baby.

When and how is the test carried out?
Blood samples are usually taken by a paediatric nurse onto special test cards on the 3rd to 5th day of life (not earlier than 48 hours after birth). They are done in a maternity hospital, or in hospital intensive care units if needed. The test cards are sent to the Genetics Centre at Tartu University Hospital for early detection of metabolic disorders.

If your baby goes home before 48 hours of age, you will be invited back for an outpatient appointment to complete the screening.

How will I receive the results?
Parents and family doctors are not notified of normal test results. Results can be accessed through the Estonian Health Portal. Only families and doctors of babies with abnormal results will be contacted.

Contact information
For more detailed information about newborn screening, please visit the Genetics Centre website.

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