Newborn tests in Australia

Tests on the baby, not on the pregnancy

Newborn screening is done after the birth and tests the baby. It is a different exercise from the antenatal screening offered to you during pregnancy, which looks at the pregnancy and at your own blood. A reassuring antenatal result tells you nothing about what newborn screening will find, which is exactly why both are offered.

Australia has offered newborn bloodspot screening in every state and territory since the 1960s. About 99% of babies are screened each year, more than 300,000 of them, and around 1 in every 1,000 has a condition that would otherwise have gone undetected.

The newborn bloodspot test

The test is done 48 to 72 hours after birth. A midwife or nurse checks you have received information about it and agree to it, then pricks your baby's heel and collects a few drops of blood on a special filter paper card, which goes to a laboratory. The test is free.

Results work on an exception basis. If the result is normal you will not hear anything. You are contacted only if further testing is needed, in which case laboratory staff notify your healthcare providers, who arrange it. That is worth knowing in advance, because silence is easy to misread as an administrative failure.

What is screened for

The national target list covers several groups of rare but serious conditions:

• Endocrine disorders: congenital adrenal hyperplasia and primary congenital hypothyroidism.
• Amino acid disorders: including phenylketonuria, maple syrup urine disease, homocystinuria, citrullinaemia type I and the tyrosinaemias.
• Fatty acid oxidation disorders: including MCAD, VLCAD and LCHAD deficiency, carnitine uptake defect and trifunctional protein deficiency.
• Organic acid disorders: including glutaric acidaemia types I and II, isovaleric acidaemia, propionic acidaemia and the methylmalonic acidaemias.
• Other disorders: cystic fibrosis, spinal muscular atrophy, severe combined immunodeficiency, galactosaemia and GAMT deficiency.

Why your state still matters

Programs are delivered by states and territories through their hospital and pathology networks, not by the Commonwealth, and the lists have not historically been identical. The Department of Health is running a national expansion to increase the number of conditions screened and make the panel consistent across jurisdictions.

Several conditions are agreed as targets but still being implemented, and are marked pending in most jurisdictions: biotinidase deficiency (agreed 6 February 2025), X-linked adrenoleukodystrophy (males agreed 6 December 2024, females 12 December 2025), sickle cell disease (agreed 25 September 2024), and mucopolysaccharidosis types I and II (both agreed 13 June 2026). If one of those matters to your family, ask your state program whether it is screening yet.

The newborn hearing screening test

The hearing screen is a routine check to detect hearing loss early. If your baby is born in hospital it is usually performed before discharge. It is quick, painless and safe, and your baby can sleep or feed through it.

Early detection is the whole point. Congenital hearing loss that is picked up in the first weeks allows support for language development to begin far sooner than it otherwise would, and most affected babies are born into families with no history of hearing loss, so waiting for a reason to suspect it does not work.

Not getting a clear response on the first attempt is common and is not a diagnosis. It leads to a repeat screen or a referral for fuller assessment.

The physical check

Alongside the two screening tests, your baby has a health check at birth as the first point on Australia's child health check schedule. The nurse or doctor examines your baby from head to toe, weighs and measures them, and checks the head and skin, with eyes, hips and hearing assessed at the relevant ages. Findings go into the child health record book you are given when your baby is born, and the next scheduled check follows at 1 to 4 weeks.

Consent, storage and declining

Newborn bloodspot screening is offered, not imposed. Parents are asked for consent before the test is done, and you can decline. If you do, ask what the alternative pathway is for the conditions concerned, because for several of them treatment only works if it starts in the first weeks.

Samples are retained after testing, and each state and territory program has its own policy on how long cards are stored and what they may be used for. If that matters to you, ask your program directly before the test rather than afterwards; the Department of Health's newborn bloodspot screening pages list contact details for every jurisdiction.

How conditions get added

Knowing the process helps make sense of why the panel is uneven. Conditions reach the national list through a decision-making pathway agreed by Health Ministers, assessed against the criteria in Australia's Newborn Bloodspot Screening National Policy Framework — whether the condition is serious, whether it benefits from diagnosis in the newborn period, whether a reliable test exists and whether effective treatment is available.

The first public open call for conditions ran from 14 October 2025 to 14 January 2026, inviting anyone to nominate a condition for consideration. Nominations from that round are working through the pathway. Conditions assessed as not meeting the framework criteria go onto a register and are revisited as treatments and technology change, rather than being rejected permanently.

Screening also picks up some conditions it was not designed to look for. These are classed as non-target conditions: they may be detected incidentally while testing for a target condition, and abnormal findings are reported and followed up either way.

What to check before you leave hospital

• Has the bloodspot sample been taken, and on what date and time?
• Has the hearing screen been done, and what was the result?
• Are the contact details held for me current, including my phone number?
• Which state or territory program holds my baby's results?

If you go home very early, or give birth at home or in a birth centre, confirm with your midwife who is arranging the bloodspot test and the hearing screen and by when — the 48-to-72-hour window for the heel prick is short, and it is the step most likely to be missed outside a hospital ward.

Where to get help

The Department of Health, Disability and Ageing is the governing authority for the national newborn bloodspot screening framework and publishes the current list of conditions screened and those under implementation. Your state or territory program runs the testing and holds your baby's results. Pregnancy, Birth and Baby, staffed by maternal child health nurses, is the place to call if you are unsure whether a test has been done or what a result means.