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What is newborn screening?
Newborn screening is a simple blood test that helps doctors identify rare disorders or illnesses before symptoms are obvious – and before babies develop permanent disability or irreversible diseases.
Newborn screening can pick up signs of more than 20 congenital disorders. Newborn screening doesn’t tell you whether your baby definitely has a particular condition.
You’ll be offered newborn screening in the first few days after your baby’s birth.
There is no cost for newborn screening in Australia.
Almost all newborns are born healthy. Only a very few babies have disorders or illnesses that might not be obvious at birth.
Why newborn screening is done
Newborn screening helps to detect rare genetic and/or metabolic disorders. If these conditions are identified early, treatment can start early too. Early treatment can reduce the effects of these conditions. And in some cases, early treatment can stop children from having life-threatening symptoms.
In Australia, newborn screening covers the following conditions:
There are other conditions that are tested only in some Australian hospitals. If people in your local community have these conditions, your hospital is more likely to test for them:
You can ask your 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 when your baby is 48-72 hours old.
Consent for newborn screening
Your doctor or midwife will ask for your permission to do newborn screening. In some states, you’ll be asked to sign a form.
You might also be asked whether blood from your baby’s screening test can be used in the future for research into childhood diseases like cerebral palsy and some types of cancers. This is your choice. If this idea makes you uncomfortable, you can say no.
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 leave the 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.
Some parents are concerned that newborn screening can be painful for babies. If you’re worried, you could weigh up your baby’s quick experience of discomfort against the knowledge that he’ll be safer from illness if you take advantage of this test. Swaddling, breastfeeding or giving baby a few drops of colostrum
can comfort him during the test.
Newborn screening results
Results are usually available about two 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.
About 1 in 1000 babies has an abnormal result. If your baby’s results aren’t normal, you’ll be contacted straight away 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 she can start treatment.
When newborn screening needs to be repeated
Some babies need to have their newborn screening tests repeated. If this happens with your baby, it doesn’t necessarily mean your baby has had an abnormal result.
Newborn screening often needs to be repeated if:
- your newborn’s first screening test did not give a clear result
- 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 two 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 two years. You can ask for your baby’s card to be returned to you after two years. For this to happen, you and your baby’s other parent must both give permission and complete a written application form.
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: