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Neonatal screening test

cystic; fibrosis; guthrie; neonatal; screening; heel; prick; galactosaemia; galactosemia; hypothyroidism; phenylketonuria; PKU; cystic; fibrosis; guthrie; test; fatty; acid; oxidation; lysosomal; storage; diseases; congenital; antenatal; newborn; neonatal;

Babies born in Australia have a blood test taken when they are about 48 hours old. This test is the Neonatal Screening Test, sometimes called the 'Guthrie' test, or 'heel prick' test. The test can tell if a baby has one of many rare but serious health problems before any harm is done and even before there are signs that there is a health problem.

Over 30 different health problems can be detected using these blood spots. The blood spots are tested for Phenylketonuria (PKU), Galactosaemia, Congenital Hypothyroidism, Cystic Fibrosis (CF), and several conditions affecting the breakdown of fats (fatty acid oxygenation defects (FAOD)) and proteins (amino acid metabolism disorders).

Most of the children who are found to have these problems will need specialised support, usually through a major children's hospital – in South Australia this will be at the Women's and Children's Hospital.

Finding these problems early means that the children can have treatment which can lessen, or prevent, harm from the problems.

Each of these health problems is rare, but added together, about one in 800 newborn babies will be found to have one of these health problems.

Information about the screening tests

Pregnancy, birth and baby (Australia) 

SA Pathology

Information about the health conditions

Sydney Children's Hospitals Network 

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The information on this site should not be used as an alternative to professional care. If you have a particular problem, see a doctor, or ring the Parent Helpline on 1300 364 100 (local call cost from anywhere in South Australia).

This topic may use 'he' and 'she' in turn - please change to suit your child's sex.

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