Healthcare providers have offered newborn bloodspot screening (NBS) to babies in all states and territories in Australia since the 1960s.
In Australia, about 99% of babies are screened every year – more than 300,000 babies. Of the babies screened, around 1 in every 1,000 has a condition that would otherwise have gone undetected.
These screening programs allow babies with these rare conditions to receive care and support earlier than they otherwise would. Earlier intervention leads to better health outcomes for the baby and the family.
How it works
Healthcare staff offer this free test to families of all newborns in the first few days after a baby’s birth. The program works like this:
- A midwife or nurse will check that families have received information on newborn bloodspot screening and agree to the test.
- If they agree, the midwife or nurse pricks the baby’s heel and collects some blood on a special filter paper card.
- The bloodspot card is sent to a specific laboratory depending on the state of the baby’s birth, along with the baby’s name and other details.
- The laboratory tests the blood sample for a range of serious conditions.
- If the screening test returns a normal result, parents will not hear anything about the result. This means you will only be contacted if the test results indicate further testing is needed.
- If the screening test shows an abnormal result, laboratory staff tell healthcare providers, who arrange for the baby to receive further testing.
Conditions screening can detect
Newborn bloodspot screening tests for a number of conditions, including:
- Phenylketonuria – the liver does not produce enough of a particular enzyme, which can cause intellectual disability if untreated.
- Congenital Hypothyroidism – the baby does not produce enough thyroid hormone. This can cause intellectual disability and growth problems if untreated.
- Cystic fibrosis – the baby’s lungs and gastrointestinal system produce an abnormal mucus that clogs the affected organs and stops them from working properly.
See what conditions are screened in Australia.
How to find out about your baby’s newborn bloodspot result
State and territory governments deliver newborn bloodspot screening programs.
If you want to know your baby’s result, or about the bloodspot card, you can contact your state or territory NBS program.
You will not be contacted if the test results are normal. You will only be contacted if another sample is required, or if the result indicates further testing is needed.
National policy framework
This framework provides information for experts involved in newborn bloodspot screening, and families, about how the programs operate. It also includes the screening criteria that guide assessment of new conditions for inclusion in Australia’s NBS programs.
Please note: the decision-making pathway outlined in the policy framework (Policy Area 5, Part 1) is no longer in use because the committees referenced in the assessment process no longer exist. The process currently uses the expertise of the Medical Services Advisory Committee. This pathway is under review. However, the decision-making criteria (Policy Area 5, Part II) continues to guide consideration of the benefits and harms of newborn screening.
We will review this framework as part of our work to expand newborn bloodspot screening programs.