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 can affect normal development. Early diagnosis means that treatment can be started immediately and serious intellectual and/or physical disability prevented.
Why this screening test is important?
- Conditions can be identified early – 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.
- There are no alternative ways to identify babies with these conditions – by the time symptoms appear, their development may already be impaired
When is the screening test performed?
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 26 different health problems including:
| Phenylketonuria (PKU) |
Incidence is 1 in 13 000 Queensland babies. |
PKU causes autism, intellectual disability and seizures. It is managed with a low phenylalanine diet through childhood. |
| Congenital hypothyroidism |
Incidence is 1 in 3 000 Queensland babies. |
If treatment is begun soon after birth, later intelligence is normal. Clinical signs are hard to detect until brain damange has already occurred. |
| Cystic fibrosis |
Incidence is 1 in 2 800 Queensland babies. |
Impaired digestive and respiratory function. Early detection allows genetic counselling and early treatment, delays in symptoms and prolongs life. |
| Galactosaemia |
Incidence is 1 in
44 000 Queensland babies. |
In babies with the disorder, build up of galactose causes liver failure, intellectual disability, seizures, serious infections, cataracts, and if untreated, death. Treatment is a milk-free diet. |
| Amino acid, organic acid, fatty acid oxidation disorders and others. |
Mostly conditions of amino acid and fat metabolism. |
In many of these disorders, early detection allows life-saving treatment with dietary modification or medication. |
Is screening safe?
Screening is quick and safe. A few drops of blood will be taken from your baby’s heel and collected onto blotting paper. If you are breastfeeding, you will be asked to start feeding your baby, as the sucrose available in breast milk can help reduce any pain your baby will feel (oral sucrose can be given to your baby if they are unable to breastfeed or you are formula feeding).
What are the risks of not screening my baby?
There are no alternative ways to identify babies with these conditions. Affected babies who are not identified through the newborn screening program will develop symptoms and could even die suddenly. While they can be offered treatment when they show symptoms, by the time symptoms appear, their growth and development may already be impaired.
Consent
You will be asked to provide your consent and sign the Queensland Newborn Screening Program collection card before the blood sample is collected from your baby. If you choose not to have your baby screened, the screening card details will be completed, the card marked ‘declined’ and sent to the laboratory.
If you and your baby plan to go home before the newborn screening test is able to be collected, talk to your midwife about where the test can be performed. Your midwife will help you make plans for the sample to be collected.
Test results
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.
All the results are usually completed within six weeks – you will only be contacted if your baby’s test results come back with an abnormal result and provided with instructions about what to do next. An abnormal result of a screening test means that your baby is at increased risk of having a disorder. Therefore, your baby will need to have further testing and examination by a specialist doctor to find out whether your baby has the condition.
Storing samples
The sample is kept for 28 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 and auditing purposes. 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. As such, the samples must be kept for 10 years after the child reaches the age of 18. This means that the sample must be kept for 28 years. Parents have the option to request that their baby’s sample be destroyed after 2 years.
Access to samples and information is limited by the Confidentiality Provisions of the Hospital and Health Boards Act 2011.
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.
© 2017 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 23/10/2017.
Consumers were consulted in the development of this patient information.
Last consumer engagement date: 17/9/2017
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.