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Newborn screening test

Information for parents

In Australia, all babies are offered the Newborn Screening Test, a simple and free blood test to detect rare but important medical disorders that can affect normal development.

Why is this screening important?

Early diagnosis means that treatment can be started immediately and serious intellectual and or physical disability prevented. Affected babies do not show signs or symptoms of illness at birth and can quickly become unwell. By the time symptoms appear, their development may already be impaired.

When is the screening test performed?

There are no alternate ways to identify babies with these conditions—early testing is important which is why this test is preferably performed when your baby is between 48 and 72 hours old. 

What conditions does the screening test look for?

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

The body can’t breakdown a protein (called phenylalanine) properly. This causes the protein (phenylalanine) to build-up in the blood. If not managed with a special diet, it can cause brain damage.
Hypothyroidism The body doesn’t make enough thyroid hormone. If not treated with medicine (to replace the thyroid hormone), it can cause slow intellectual development (slow ability to think and reason). 
Cystic Fibrosis Effects digestive juices, mucous and sweat. Cystic fibrosis causes breathing problems, lung infections and poor growth if not treated with medicines, diet and other therapy.
Galactosaemia The body can’t breakdown a sugar (called galactose) properly. This can lead to a build-up of galactose in the blood. Galactose is found in many foods including in breastmilk. If not treated with a special diet, it can cause problems with the liver and kidneys, and intellectual disability and cataracts.
The body doesn’t make enough of a hormone called cortisol. Cortisol helps the body deal with illness and stress. If not treated with medicine, it can change how the body develops and matures. It may also result in severe dehydration (when your body loses more fluid than you take in) needing treatment in hospital.

In many of these disorders, early detection allows life-saving treatment with dietary modification or medication.

There are a wide range of metabolic conditions that are screened including:

Spinal Muscular Atrophy Affects the motor nerves of the spinal cord sending a message from our brain to our muscles, telling the muscles to move. These messages do no reach the muscles and this causes difficulty crawling, sitting, walking and moving their limbs and neck. Their ability to breathe and swallow may also be affected.
Severe Combined 
Causes a very weak immune being unable to fight off even mild infections. Treatments are available to help manage condition that can be successful.
Causes an inability to produce antibodies which help fight infections caused by bacteria and some viruses. Early treatment may enable a relatively normal active life.

If you would like more information about these conditions, please visit the Queensland Health website at health.qld.gov.au.

Is screening safe?

Screening is safe. A heal prick is required and the blood is collected onto blotting paper. If you are breastfeeding you will be asked to start feeding your baby as this can reduce any pain your baby will feel. If you are unable to breastfeed, 
sucrose and sucking on a pacifier may also reduce pain.

Parental consent

You will be asked to provide your consent and sign the Newborn Screening card before the blood sample is collected from your baby. 

If you and your baby go home before the newborn screening test is collected, please speak to your health professional about where the test can be performed. 

If you choose not to have your baby screened, the card details will still be completed, and you will be asked to tick the refusal box and sign the card. It is important to notify your GP or child health nurse so that your baby can be closely monitored for any health and development issues. 

Test results

You will only be contacted if there are concerns or if the test needs to be repeated. The test may need to be repeated if your baby is born early or unwell, is not having milk feeds at time when the first test was taken, had a glucose infusion via drip, had a blood transfusion and if they are a same sex multiple.

Storing samples

The National Pathology Accreditation Advisory Committee (NPAAC) requires the screening cards are kept for two years. 
Samples are held for quality control and auditing purposes. Newborn screening samples are considered clinical records. The management of these records must be in line with the Health Sector (Clinical Records) Retention and Disposal Schedule July 2021. 

DNA analysis

DNA testing is becoming routine practice within newborn screening laboratories within Australia and around the world. Some of the newer disorders such as Spinal Muscular Atrophy require the amplification of DNA to detect. There is no link to forensic testing.

Further information

For more information about the Newborn Screening Test, please speak with your doctor or midwife.

© 2024 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 30/1/2024.
Consumers were consulted in the development of this patient information.
Last consumer engagement date: 05/7/2023
For further translated health information, you can visit healthtranslations.vic.gov.au/ supported by the Victorian Department of Health and Human Services that offers a range of patient information in multiple languages.
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