Newborn screening

What is newborn screening?

Newborn screening is a heel prick test that is performed on babies in their first few days of life. This test can detect early signs of a number of congenital metabolic disorders. Detecting these conditions at such a young age means that the child can commence care and treatment for their condition as soon as possible.

How do we help children by performing newborn screening?

Each year the Newborn Screening Programme tests over 90,000 babies and detects about 90 who need urgent assessment and treatment. 

Newborn screening tests are free. The tests are not compulsory, and parents may refuse the test on behalf of their baby, but this could unnecessarily risk the baby's health. The pamphlet "Test to protect your baby" is essential reading for all mothers before their baby has the newborn screening sample taken. It is available in English and in nine other languages.

The disorders we screen for are:

  • phenylketonuria
  • congenital hypothyroidism
  • cystic fibrosis
  • galactosaemia
  • selected aminoacidopathies
  • selected organic acidaemias
  • fatty acid oxidation defects

The services offered by the laboratory are:

  • testing of blood samples from apparently healthy babies for congenital disorders and ensuring that babies detected by the screening tests receive appropriate investigation and management by the attending physicians
  • an advisory service for the further investigation and management of babies detected by screening tests
  • monitoring the progress of babies detected by screening, when required
  • services to interstate and overseas screening laboratories

For detailed information about The Children's Hospital at Westmead's Newborn Screening Service, go to the NSW Newborn Screening Programme page. 

For more information, please also see Biochemical Genetics.