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Baby—newborn screening test

Information for Parents

In Australia, all babies are given the Newborn Screening Test, a simple and free blood test to search for rare but important medical disorders that affect babies. Early testing is important which is why this test is preferably performed when your baby is between 48 and 72 hours old.

Early diagnosis means that treatment can be started immediately and serious mental and/or physical disability prevented.

You will be asked to start feeding your baby, as feeding reduces the pain your baby will feel. A few drops of blood will then be taken from your baby’s heel and collected onto blotting paper.

If you and your baby plan to go home before the test, talk to your midwife about where the test can be performed. Your midwife will help you make plans for the sample to be collected.


The blood sample will be sent to the Neonatal Screening Laboratory where it will be tested for over 30 different health problems including:

Primary Hypothyroidism is an uncommon condition caused by a problem with the thyroid gland. Up to 20 babies in Queensland are born with Primary Hypothyroidism each year. Early treatment can prevent learning disabilities and other health problems.

Cystic Fibrosis causes chest infections and diarrhoea and can also stop your baby from gaining weight. In Queensland, up to 20 babies are born with Cystic Fibrosis each year. Early treatment improves the outcome for these babies.

Phenylketonuria (PKU) is a rare health problem. Up to five babies are born each year in Queensland with PKU. It occurs when a baby cannot break down some proteins. Early treatment usually prevents learning disabilities and other health problems.

Galactosaemia is a very rare health problem that affects one or two babies in Queensland each year. It occurs when a baby cannot break down a milk sugar called galactose. Early treatment will help stop severe illness and/or death and also help prevent other long-term health problems.

Other tests available: Tandem mass spectrometry allows screening for a range of rare disorders of amino acid, organic acid and fatty acid metabolism. Most of these disorders are caused by a missing enzyme.

Test Results

You will only be contacted if your baby’s test results come back with an abnormal result. All the results are usually completed within six weeks.

Some babies will need to have a repeat test because the first sample did not give a clear result. If you are asked to take your baby for a repeat test, it is important that you do this a soon as possible. You and your doctor will be notified straight away if the results suggest any problems.

Storing samples

The sample is kept for 25 years. The only change from this policy is when a valid request for destruction is received. In this case the storage period will be two years.

Samples are held for quality control and to allow development of new screening tests. It is also a requirement of the National Pathology Accreditation Advisory Committee (NPAAC). Newborn screening samples are considered to be clinical records. The management of these records must be in line with the Public Records Act 2002.

Access to samples and information is limited by the Confidentiality Provisions of the Health Services Act 1991.

DNA analysis

Only samples with abnormal results will be DNA tested. The DNA tests are performed to confirm the diagnosis suspected following biochemical testing. The only DNA change tested for is the one known to have a direct link to the disease. This has no link to forensic identification testing.

Further information

For more information about the Newborn Screening Test ask your doctor or midwife.

Additional information can be found online at:


  • Queensland Newborn Screening Program
  • General Information. Revised: 17/05/2006
  • Morhbacher N & Stock J (2003) The Breastfeeding Answer Book, La Leche League, Illinois
  • Riordan J & Auerbach K (2005) Breastfeeding and Human Lactation, Jones & Bartlett, Boston

© 2013 Mater Misericordiae Ltd. ACN 096 708 922

Mater acknowledges consumer consultation in the development of this patient information.
Mater Doc Num: PI-CLN-430035
Last modified 09/8/2017.
Consumers were consulted in the development of this patient information.
Last consumer engagement date: 28/2/2014
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