Newborn Screening
A few days after birth your baby will have a Newborn Screening Test done. The test is also sometimes called the “heel-prick test” or the Guthrie test. The test is to check for a number of rare but serious conditions which if not detected early can lead to severe disability or death.
What conditions are screened for?
In Ireland all babies are screened for 5 conditions:
- Congenital Hypothyroidism
- Phenylketonuria
- Galactosaemia
- Homocystinuria
- Maple Syrup Urine Disease
Congenital hypothyroidism is an abnormality that may be present at birth. The other conditions are inherited when both parents carry an abnormal gene. Additional conditions are tested for in other countries and may be tested for in Ireland in the future.
How is the test done?
The test is done between day 3 and day 5 after birth. If your baby is discharged home before day 3 then the test is usually done by a Public Health Nurse at home. However for most premature babies the test will be done when the baby is still in hospital. The test is usually done by pricking the baby’s heel (“heel prick test”) and collecting some drops of blood onto the screening card. If a premature baby requires some other blood test around the time that the newborn screen is due then some additional blood may be taken at the time of the blood test rather than pricking the baby’s heel. For some babies at higher risk of Galactosaemia, an additional test may be taken at or shortly after birth.
Results and Repeat tests
All the screening cards are sent to the National Newborn Screening Laboratory at the Children’s University Hospital, Temple Street, Dublin. You will usually only be informed if the test is abnormal. Sometimes a second test may need to be performed. This is usually because there was not enough blood on the first card or the results are unclear.
Premature babies may require a repeat test at intervals until they are fully established on feeds.
Treatment
If your baby is identified as having one of these conditions then further testing may be required. This will be co-ordinated between your doctor and the specialist team at Children’s University Hospital in Temple Street. Congenital hypothyroidism is treated with medication. The other conditions are treated with a special diet. Treatment is required for life.
Most children with these conditions grow and develop normally following treatment.
Written by: Dr Con Sreenan, Consultant Neonatologist, Midwestern Regional Hospital Limerick