What is newborn screening?
Newborn screening is a simple blood test that helps doctors identify rare but serious conditions. The test is done within three days after your baby's birth, before symptoms are obvious. This is so treatment can start before a condition causes problems.
Newborn screening can pick up signs of more than 25 rare conditions. These conditions might not be obvious before babies are born. Newborn screening doesn't tell you whether your baby definitely has a particular condition. It tells you that your baby is at increased risk for a condition.
You'll be offered newborn screening in the first 48-72 hours after your baby's birth. You don't have to pay for newborn screening.Almost all newborns are born healthy. Less than 1% of babies have a serious condition that might not be obvious at birth.
Why newborn screening is done
Newborn screening helps to detect rare conditions. 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.
In Australia, newborn screening covers 25 conditions. The most common are:
- congenital hypothyroidism (CH)
- cystic fibrosis (CF)
- amino acid disorders like phenylketonuria (PKU)
- organic acid disorders
- fatty acid metabolism disorders.
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:
- biotinidase deficiency
- congenital adrenal hyperplasia (CAH)
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 48-72 hours after your baby's birth.
Consent for newborn screening
Your doctor or midwife will talk to 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 new 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. This can help your health professional understand why your baby is unwell.
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'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.Some parents are concerned that newborn screening can be painful for babies. Swaddling, breastfeeding or giving baby a few drops of colostrum can comfort your baby during the test. 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 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 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 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:
- there isn't enough blood to perform the screening test
- 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 apply 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 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:
- developmental dysplasia of the hip (DDH)
- hearing impairment.