The NSW Newborn Screening Programme

The purpose of newborn screening is to test all newborns for early signs of a number of treatable congenital metabolic disorders. This website describes these disorders and the operation of the New South Wales Newborn Screening Programme.

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.

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.

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

Who we are and what we do How we operate: » Location » Hours of service » Telephone and fax » Quality of testing Services offered Staff Testing the samples: » Routine screening » Results/resamples » Records and data collection Storing the samples Disorders we test for: » Phenylketonuria » Congenital hypothyroidism » Cystic fibrosis » Galactosaemia » Aminoacidopathies    by MSMS » Organic acidaemias    by MSMS » Fatty acid oxidation defects    by MSMS

Newborn screening pamphlets: » "Test to protect your baby" Fact sheets: » Citrulline » Congenital hypothyroidism » Cystic fibrosis » Galactosaemia » MCAD deficiency » MSU disease » New test for over 20 rare         metabolic disorders » Phenylketonuria » Storage of samples