Newborn Screening Test in Australia: What You Need to Know

newborn boy in hospital bassinet

Australian hospitals have offered newborn bloodspot screening to babies since the 1960s. The newborn screening test program has saved thousands of Aussies from lifelong disability or death due to a range of conditions. Most bubs undergoing the screening will have a normal test result. Less than 1% of results show that an infant is at increased risk of a disease.

What Is the Australian Newborn Screening Test?

All babies in Australia can undergo newborn bloodspot screening free of charge. The blood test can pick up certain rare genetic conditions and metabolic disorders so affected babies can receive prompt treatment.

  • Your hospital will organise a bloodspot screening test for your baby.
  • For a home birth, your midwife will organise the test.
  • It will be performed 48 to 72 hours after your baby is born.
  • You'll have to give your consent before the screening, which involves a heel prick test.

Why Is Newborn Bloodspot Screening Important?

Early detection of the conditions covered by the newborn screening program means early diagnosis, earlier intervention, and early treatment for those at risk of developing a serious condition.

The risks of not screening your baby are high. Affected babies, who aren't identified through the program, will develop symptoms and could even die suddenly.

While treatment can be offered later, by the time symptoms appear, your bub's growth and development may already have been affected.

How Much Does the Newborn Screening Test Cost?

The newborn screening test is free.

How Is Newborn Bloodspot Screening Done?

The newborn screening test involves a midwife or nurse pricking your baby's heel. Then, they'll squeeze out a few drops of the baby's blood onto a special screening card, which is sent to a lab for testing.

It shouldn't hurt your bubba too much as it's just a tiny needle prick. But, you can soothe them by holding them, breastfeeding, or giving them a dummy during the process.

The test's usually done when a baby is 24 to 48 hours old. If the test is done any earlier, some conditions may not be detected. If the test is done later, a baby with one of the conditions might experience harmful or life-threatening symptoms before they can be given the care they need.

You'll be asked to complete a patient consent form beforehand, as screening is voluntary but highly recommended.

Newborn bloodspot screening test

What's Included in the Newborn Screening Test?

In Oz, the government's newborn screening test covers 25 conditions, most commonly:

  • Congenital hypothyroidism
  • Cystic fibrosis
  • Phenylketonuria (PKU) and other conditions related to processing amino acids
  • Several organic acid disorders
  • A range of fatty-acid metabolism disorders

If the following conditions are prevalent in your local community, your hospital may also test for them:

  • Biotinidase deficiency
  • Congenital adrenal hyperplasia
  • Galactosaemia
  • Haemoglobinopathies

The newborn screening panel will provide the list of conditions your baby will be screened for.

Beyond the Heel Prick Test, What Other Newborn Tests Are There?

Other newborn screening tests you may encounter include:

  • A hearing test: This is usually done before you leave the hospital or at home. It checks for any hearing loss in your newborn.
  • Pulse oximetry screening: This can detect heart conditions that are associated with a low oxygen level in the baby's blood. A sensor is placed around your littlie's wrist, with a cord attached to a blood oxygen level reading monitor.
  • Down syndrome test: Health care providers can usually tell if a baby should be tested for this disorder based on a physical examination. A rapid blood test (FISH) can confirm the presence of extra material from chromosome 21.
  • Blood type tests: These are possible in instances such as when the mother's blood has an antibody that could be harmful to the baby or if your bub has clinical symptoms that might be explained by the results of such a test.

Outside hospital care, an Australian pathology company called Genepath has developed a screening test, NextGen, to complement the traditional heel prick test. Using a simple mouth swab, it can check for more than 60 genetic disorders in your newborn, including Krabbe disease. However, there is a fee attached.

Can Autism Be Detected in Newborn Screening Tests?

Diagnosing autism spectrum disorder can be tough, as there's no medical test for the group of disorders. As such, autism cannot be diagnosed as part of any current newborn screening test. Doctors will look at a child's developmental history and behaviour to make an autism diagnosis.

How Accurate Is Newborn Screening?

Newborn screening can tell you whether your baby is at increased risk for a condition, not whether they definitely have a particular condition.

If an abnormal or positive test result comes back, your health care providers will arrange for your baby to receive urgent care, if necessary, or for them to have further testing to confirm that they do have the condition.

For example, the latter occurs in the case of cystic fibrosis. A positive newborn screening result will tell you that your baby might have cystic fibrosis. But further testing through a sweat test is required to rule out or diagnose the genetic disease.

On occasion, a false positive result can also happen for various reasons, and a repeat test sample will be needed to clarify the results.

What Happens After Newborn Bloodspot Screening Is Conducted?

Results are generally available about a fortnight after the test when they're sent to your midwife or hospital. Usually, you'll only be contacted if there's a problem.

If the results are abnormal, you'll hear straightaway, and your baby will be referred to a specialist for further testing to diagnose a condition.

Doctor giving newborn baby checkup

What Happens to the Newborn Bloodspot Screening Card After Testing?

All screening cards are stored at the laboratory for a minimum of two years, as required by the National Pathology Accreditation Advisory Council. This is so your baby's blood sample can be found easily if they need to do more testing.

Each state and territory has different rules about what happens with the screening cards beyond this time. You can apply for your baby's card to be returned to you by submitting a written application form.

What Support Is Available if a Condition Is Detected?

If your child's been diagnosed with a genetic condition or health disorder, it can be helpful to seek genetic counselling.

A genetic counsellor is qualified in counselling and genetics and can offer emotional support and advice.

Your GP or paediatrician can also offer support. As well, it can be worthwhile getting in touch with an association appropriate to your newborn's needs, such as Cystic Fibrosis Australia if cystic fibrosis has been diagnosed.

Newborn Screening Is Good for You and Your Bub

The procedure for the newborn screening test is relatively straightforward. Almost all babies have normal newborn screening test results. But if there are abnormal results from a newborn screening test, it's good to have this picked up early and to get the help or further testing required.

Newborn Screening Test in Australia: What You Need to Know