Newborn screening tests

• Why screening tests are important
• Apgar score
• Heel prick (Guthrie) test
• Developmental dysplasia of the hip (DDH) test
• Hearing test
• Test results
• Follow-up tests
• More information
  

Why screening tests are important

Most newborns are perfectly normal. A very small minority, however, have disorders or illnesses that might not be obvious at birth.

Screening tests don’t diagnose illnesses – they just indicate whether your newborn needs more tests to rule out serious conditions. They can identify signs of more than 30 congenital disorders.

Newborn screening helps your doctor identify any problems before your baby develops permanent damage or an irreversible disease. Screening involves taking blood from your baby’s heel with a needle. This blood test aims to detect certain rare, genetic and/or metabolic conditions that might be life threatening or cause intellectual disability before symptoms are obvious. The goal is to reduce the effects of any conditions through earlier treatment.

Newborn screening is voluntary. Some parents aren’t keen on putting their child through the pain of the blood test. But if you’re worried, you could weigh up the quick experience of discomfort against the knowledge that your child will be safe from illness if you take advantage of the tests.

Apgar score

The Apgar score isn’t part of the newborn screening test program, but it’s used by clinicians to assess the condition of your baby at birth.

What to expect
Apgar is a scoring system. Your baby is first checked at birth, at one minute then again at 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 needed resuscitation and the five-minute Apgar score is less than seven, the score is repeated at five-minute intervals until 20 minutes.

Why it’s 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. It doesn’t diagnose any specific disease.

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

Heel prick (Guthrie) test

What to expect
This test is done when your baby is 48-72 hours old. It’s completely voluntary, so your doctor, midwife or nurse has to ask you if you want your baby to be tested.

You and your baby might 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’re worried about this causing him pain, you could try breastfeeding him while the test happens – research shows that this could comfort him.

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

Why it’s 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 tested only 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)

A doctor will usually check for DDH straight after birth or in a newborn’s first few days. The test is repeated at six weeks.

The doctor will put your baby on her back and move her leg while feeling and listening to each hip for signs of dislocation, such as a ‘click’ or ‘clunk’ sound. Sometimes doctors might use an X-ray or ultrasound to help them. 

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

Note: DDH was previously called congenital dislocation of the hip (CDH).

Hearing test

Small sensor pads are put on your baby’s head while he’s 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. 

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

Test results

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

Follow-up tests

Your hospital or midwife will contact you if there are any concerns with the test results, but this doesn’t always mean your baby has a problem. Only a few babies need to have more tests, and follow-up tests usually happen because the first test didn’t give a clear result.

If your baby’s test results are abnormal, your doctor or midwife will usually ask for your permission to do extra tests. They might also ask you to consider treatment for your baby if necessary. If you’re asked for a repeat test, it’s 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’re referred to a specialist for a more detailed examination.

More information

Newborn screening is free in Australia.

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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