Newborn screening

About newborn screening

Newborn screening is a simple blood test, which helps doctors identify rare but serious conditions.

Newborn screening can pick up signs of at least 25 rare conditions that can’t be spotted before birth. It can also pick up signs before obvious symptoms appear. If these conditions are identified early, treatment can start early too. In most cases, early treatment can prevent or reduce the effects of these conditions, some of which are life-threatening.

This is why you’ll be offered newborn screening in the first 48-72 hours after your baby’s birth.

Newborn screening tells you whether your baby is at increased risk for a condition. You'll need further testing to find out whether your baby definitely has a particular condition.

Almost all newborns are born healthy. Less than 1% of newborn screening results show that a baby is at increased risk of a disease.

What conditions does newborn screening look for?

In Australia, newborn screening covers at least 25 conditions. The most common are:

There are other conditions that are tested only in some Australian states and territories. For example, congenital adrenal hyperplasia (CAH) and galactosaemia.

You can ask your child and family health nurse or midwife about the conditions covered by newborn screening in your hospital or community.

There are some conditions and disorders that newborn screening doesn’t cover. Let your doctor or nurse know if you have a family history of any disorders or conditions.

Newborn screening checks for rare disorders and conditions. Most children with these disorders come from families with no previous history of the disorders.

Newborn screening: what to expect

When newborn screening is done
Newborn screening is done 48-72 hours after your baby’s birth.

Consent for newborn screening
Your doctor or midwife will talk with you about newborn screening and ask for your permission to do the test. If you consent, you’ll be asked to sign a form or a newborn screening card.

If you don’t consent to newborn screening, you’ll be asked to sign a Decline of Screening form. If your baby becomes ill at some stage, it’s important to tell your child and family health nurse or GP that your baby didn’t have newborn screening.

You might also be asked whether blood from your baby’s screening test can be used in the future for research. Consenting to this is your choice. You can say no. If you agree to your baby’s blood being used in research, your baby’s identity will be kept confidential from researchers.

Taking baby’s blood sample
The midwife will warm your baby’s heel (usually using your hand or a blanket). The midwife will prick your baby’s heel and collect a few drops of blood on special filter paper. The filter paper is dried, then sent to a laboratory where your baby’s blood is tested for different conditions.

If you’re discharged from hospital early, your local child and family health nurse or midwife can collect your baby’s blood sample at your home.

The date of newborn screening should be recorded in your baby’s child health and development record book.

Costs of screening
Newborn screening is free. You don’t have to pay.

Swaddling, breastfeeding or giving baby a few drops of colostrum can comfort your baby when the blood sample is taken. Oral sucrose – a special sweet syrup – might give your baby some pain relief. You’ll need to give your consent for the midwife to give your baby oral sucrose.

Newborn screening results

Results are usually available about 2 weeks after the test, when they’re sent to your midwife or the centre where your baby was born. Almost all babies have normal results. Usually you’ll be told about your baby’s test results only if there’s a problem.

If your baby’s results aren’t normal, you’ll be contacted immediately and referred to a specialist for further testing to diagnose your baby’s condition.

It’s important to take your baby for this second round of testing without delay. The sooner your baby’s condition is diagnosed, the sooner your baby can start treatment.

When newborn screening needs to be repeated

Some babies need to have their newborn screening tests repeated.

Newborn screening often needs to be repeated for the following reasons:

There isn’t enough blood to perform the screening test.
Your newborn’s first screening test did not give a clear result or the result was just outside the normal range.
Your newborn was born prematurely and received donor blood transfusions.
Your newborn was born prematurely and was fed intravenously before starting regular breastmilk or formula-feeding.

Your hospital or midwife will contact you if your baby needs to be tested again. If you’re asked to take your baby for a repeat test, it’s important to do so as soon as possible.

How your baby’s newborn screening information is stored

In Australia, the National Pathology Accreditation Advisory Council requires all screening cards to be stored in a secure location for a minimum of 2 years. This is so your baby’s blood sample can be found easily if your baby needs more testing.

Different states and territories have different rules about what happens with screening cards after 2 years. You can apply for your baby’s card to be returned to you after 2 years. For this to happen, you and your baby’s other parent must both give permission and submit a written application form to the laboratory.

If you have any questions about newborn screening tests and results, talk to your midwife, obstetrician or GP. Antenatal classes are also a great opportunity to ask questions.

Other newborn tests

You’ll be offered other newborn checks and tests in your baby’s first few days of life. The main checks are for: