Newborn bloodspot screening

About newborn bloodspot screening

In Queensland, all babies born in public and private maternity services are offered free bloodspot screening as part of the Newborn Bloodspot Screening program (NBS).

This test—also known as a 'heel-prick' test—screens for rare but serious conditions that sometimes show no signs or symptoms in babies. Early detection means that treatment and care can start as soon as possible.

About the test

The NBS tests for more than 30 conditions, including cystic fibrosis, phenylketonuria and others.

Find out more about the conditions screened.

Some of the screening involves looking at some regions (genes) of your baby’s DNA. This testing is limited to checking a small number of genes, which have been identified by expert and patient advocate panels as suitable for newborn screening.

No other genetic testing is performed on the sample without your permission.

Consent

A sample cannot be collected from your baby without your consent.

If you choose to have your baby screened, you will be asked to sign the consent section on the screening card before the sample is collected.

If you choose not to have your baby screened, you will also be asked to sign the screening card and the card will still be sent to the laboratory. These records ensure all babies have been offered screening, even if it is declined.

Talk to your midwife, obstetrician, or paediatrician if you have any concerns about screening or are considering declining. If your baby has one of the conditions screened for, their development may already be affected before any symptoms appear.

Please let your family doctor and your child and family healthcare professional know if your baby has not been screened, so they can check for these conditions if your baby becomes unwell.

Collecting samples

The blood sample is collected from your baby between 2 and 3 days after birth. A midwife or nurse pricks your baby's heel and collects a few drops of blood onto a special card. This sample is sent to a laboratory for analysis.

Pathology Queensland is the only laboratory in Queensland that can analyse NBS samples. Samples are sent to the laboratory from across Queensland, as well as the Northern Territory (Katherine and Darwin).

Minimising discomfort

Screening is a quick, simple procedure but may cause some momentary pain or discomfort. You can help prepare your baby for the collection by putting booties or socks on their feet. Warm feet can make the collection easier. To minimise discomfort during the procedure, you may be encouraged to breastfeed or swaddle your baby. You may also consider offering your baby a pacifier.

Results

Most babies who have screening will not have any of the tested conditions.

Positive results do not mean that your child has a condition. It may mean that your baby has an increased risk of a condition. If the result is positive, you will be contacted by a specialist healthcare provider who may arrange more in-depth testing. These rare conditions can only be diagnosed and treated by specialised treatment teams.

You won't be contacted if your baby's results are normal.

Repeat samples

Sometimes your baby may need to have another sample collected if:

there was not enough or too much blood collected the first time
the sample was contaminated by lotion or baby powder
the sample took too long to reach the laboratory
the results need to be confirmed.

Card storage

Screening cards are stored for up to 28 years in a secure location. After 2 years you can request your baby’s card be destroyed. Contact the laboratory at nnsu.pathoslogy@health.qld.gov.au to confirm they hold your baby’s card and for more information.

Under rare circumstances, stored cards may be accessed and used for other purposes:

to repeat the screening tests if the first tests are unclear
in quality monitoring, to improve the accuracy of the screening process
to test improvements or expansions of the program, such as new equipment or testing new conditions
where legally requested by the Queensland State Coroner or Queensland Police Service to help with an investigation
for approved research projects, authorised by a recognised Human Research Ethics Committee. The project team will contact you for permission to use the sample for their research.

Need more information?

For more information about testing, please contact the Newborn Screening Laboratory at nnsu.pathology@health.qld.gov.au.

For specific information on metabolic disorders contact the Department of Metabolic Medicine, Queensland Children’s Hospital on 07 3068 1111.

Related resources

Last updated:: 19 August 2025