Newborn screening tests

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Most newborns are perfectly normal. A very small minority, however, have disorders or illnesses that might not be obvious at birth. Screening tests do not diagnose illnesses as such – they simply indicate whether your newborn needs more tests to rule out serious conditions. They can identify signs of more than 30 congenital disorders.

Screening tests help your doctor identify any problems before your baby becomes sick.

In their first few days, most babies with disorders look healthy and act normally. If disorders are picked up with screening tests, most of these babies can be treated and will do well.

• Apgar score
• Heel prick (Guthrie) test
• Developmental Dysplasia of the Hip (DDH) test
• Hearing test
• Test results
• Follow-up tests
• Newborn screening: free, voluntary and vital

Apgar score

What to expect

Apgar is a scoring system used to assess the condition of a baby at birth. Your baby is first checked at birth, at one minute and five minutes. Five physical characteristics are observed – skin colour, heartbeat, reflex, muscle tone and breathing. A score of 0–2 is given for each characteristic. 

If your baby is born with an Apgar score of 0-3, active resuscitation begins immediately. If your baby has required resuscitation and the five-minute Apgar score is less than seven, the score is repeated at five-minute intervals until 20 minutes.

Scores: 7-10 = normal, 4-7 = some resuscitation, 3 or below = immediate resuscitation

Why is it done?

This test checks your baby’s vital signs and helps the doctor and midwives decide whether any medical help or treatment is needed, at the time of birth or later.

Heel prick test

What to expect

This test is done when your baby is between 48 and 72 hours old.

You and your baby may be taken to a quiet room, where your baby’s heel will be pricked. A few drops of his blood will be collected on special filter paper. If you are concerned about the pain this might cause him, you could breastfeed him while the test occurs. Research indicates that this can comfort him.

The filter paper is left to dry, then sent to a newborn screening laboratory where the sample is tested for different conditions.

Why is it done?

The heel prick test is done to detect rare genetic disorders. In Australia, it usually screens newborn babies for the following conditions:

• Phenylketonuria (PKU)
• Primary congenital hypothyroidism (CH)
• Cystic fibrosis (CF).

There are other conditions that are only tested in some hospitals throughout Australia. If people in your local community have these conditions, your hospital is more likely to test for them:

• Biotinidase deficiency
• Congenital adrenal hyperplasia
• Galactosaemia
• Haemoglobinopathies

Tandem mass spectrometry test

Blood from the heel prick test is sometimes also used in a test called the tandem mass spectrometry test. This test can detect more then 30 extremely rare disorders related to how the body breaks down protein and fat. Disorders screened include:

• amino acid disorders
• organic acid disorders
• fatty acid metabolism disorders 

Developmental Dysplasia of the Hip (DDH)

What to expect

Previously referred to as Congenital Dislocation of the Hip (CDH), this condition is usually checked for by a doctor immediately after birth or in a newborn’s first few days. The test is repeated at six weeks.

Your doctor will put your baby on his back and move his leg, while feeling and listening to each hip for signs of dislocation – a ‘click’ or ‘clunk’ sound. Sometimes doctors may use an X-ray or an ultrasound to test for this condition. 

How common is the condition?

It affects one in every 700 babies. Some babies are at higher risk, such as those born after a breech presentation or where there is a family history of DDH.

Hearing

What to expect

Small sensor pads are put on baby’s head while he is quiet or asleep, usually during his first week. Specific sounds are played into his ears through a soft ear tip or earphone and his responses are recorded. 

Is it compulsory?

This hearing test is not compulsory in all Australian states. If your baby is not tested at birth, your maternal health nurse or doctor will do the test at one of your follow-up visits.

Test results

Usually you will be told about your baby’s test results only if there is a problem. If your baby’s results are normal they will usually be mailed to the centre where your baby was born, or your midwife, about two weeks after the test. If your baby’s test results are abnormal, you will be told straight away and given instructions on what to do next.

Follow-up tests

Only a few babies need to have more tests. This is usually because the first test did not give a clear result. Your hospital or midwife will contact you if there are any concerns with the test results, but this does not necessarily mean your baby has a problem.

If your baby’s test results are abnormal, your doctor or midwife will usually ask you for permission to do extra tests and ask you to consider treatment for your baby if necessary. If you are asked for a repeat test, it is important to take your baby for testing as soon as possible.

If there are any problems with your baby’s hearing test, doctors will usually do two more before you are referred to a specialist for a more detailed examination.

Newborn screening: free, voluntary and vital

Newborn screening is free in Australia. Also, the heel prick test is completely voluntary, so your doctor, midwife or nurse must ask you if you want your baby to be tested.

Some parents are not keen on subjecting their child to the pain caused by a needle prick, but if you are concerned, weigh up the momentary experience of discomfort with the knowledge that your child will be safe from illness if you take advantage of these valuable tests. Although the heel prick test measures rare conditions, children in families with no history of health problems still have a small level of risk.

In fact, most children with these disorders come from families with no previous history of the condition.

In Australia, the National Pathology Accreditation Advisory Council requires all blood samples to be stored in a secure location for a minimum of two years.

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