Treatments and tests

Your newborn baby's screening test

All newborn babies in Western Australia should take part in two screening programs in the first few days of their life, including:

  • newborn bloodspot screening to  identify a range of serious genetic conditions; and
  • newborn hearing screening to test for hearing loss in your baby.

Parents will be offered these two screening tests at different times within the first few days after birth. It is important for babies to receive both of these screening tests as they allow for early detection and intervention for serious conditions.

Information on newborn bloodspot screening is provided below.

More information on newborn hearing screening (external site).

Newborn bloodspot screening

Newborn bloodspot screening  screens your baby for serious rare diseases and genetic conditions in the first few days of life and is provided free of charge. Early treatment of these conditions can prevent intellectual and physical disability, or even death.

This test, also called the Guthrie test, has been part of the routine care for all newborn babies in Australia for over 40 years.

Before the test

Before your baby has this test you should be provided with a brochure explaining the test and asked if you consent to your baby being tested.

The newborn screening test is highly recommended for all babies, however, if you choose not to have your baby tested, you should advise your doctor.

Why is the test done?

The screening test identifies if your baby is at increased risk of a treatable condition before it makes them sick. About 1 in every 1,000 babies born in Australia will have one of these treatable conditions.

Most babies with these conditions seem healthy at first. Parents who have no family health history of these problems or who have already had healthy children can still have children with these disorders. In fact, most children with these disorders come from families with no previous history of the condition.

When and how is it done?

It is usually done when your baby is between 48 and 72 hours old. The test is provided free of charge.

A midwife or nurse will prick your baby’s heel and put a few drops of his or her blood on a special filter paper. Some babies cry when their heel is pricked, but the discomfort lasts only a short time.

The filter paper is allowed to dry and is then sent to the newborn screening laboratory where several different tests will be performed.

If you have a home-birth, check with your midwife about how to have this test.

What conditions does the test screen for?

The test screens for a number of genetic conditions including:

Phenylketonuria

This is caused when your baby is unable to break down the substance phenylalanine which is found in the protein of foods. You can prevent an intellectual disability in your baby if the condition is detected early and your baby is started on a special diet low in phenylalanine.

Congenital hypothyroidism

A lack of the thyroid hormone can lead to poor growth and intellectual disability. If the condition is detected early and he or she is treated with thyroid medication your baby will grow and develop normally.

Read more about hypthyroidism.

Galactosaemia

If your baby cannot break down the galactose part of sugar found in milk, life-threatening damage to the brain and liver can occur as early as 1 week after birth. When started early, a special milk-free diet prevents these problems.

Cystic fibrosis

People with cystic fibrosis produce abnormally thick, sticky mucus in their lungs and gut. Treatments including dietary supplements, antibiotics and physiotherapy can help prevent poor growth, chest infections and shortened lifespan.

Amino acid disorders

These are caused when your baby is unable to break down certain amino acids in the blood. Amino acids can be used by the body to make new proteins, converted into hormones, or used as an energy source. Treatments including special diets and supplements can help prevent intellectual disability, seizures, organ damage and death.

Fatty acid oxidation disorders

These disorders occur when your baby is unable to convert fat into energy. Treatment including a low fat diet, dietary supplements, and not going for long periods without eating can help prevent low blood sugar, coma and death.

Organic acid disorders

These are caused when your baby is unable to convert amino acids into energy. Treatment with a low-protein diet and supplements can help prevent vomiting, seizures, coma and death.

How will I know the results of my baby’s test?

If your baby’s screening results did not show an increased risk for the conditions tested they will be mailed to the centre where your baby was born, or to your midwife, within about 2 weeks. You will normally only be contacted if your baby’s result was abnormal.

If your baby’s test shows an abnormal result, it does not always mean your baby has one of the tested conditions. This is a screening test and can only tell if your baby is at increased risk of a condition. More testing and examination by a specialist is usually required to find out if the condition is present. This extra testing is important because early diagnosis and treatment can prevent many health related problems.

Why a repeat test is sometimes needed

A few babies will need to have a repeat screening test. This is usually because there was a problem with the first sample or the test did not give a clear result.

A request for a repeat test does not necessarily mean your child has one of the conditions he or she was tested for. However, if you are asked for a repeat test, it is important that you take your baby for the test as soon as possible.

The limitations of screening

The screening program has quality assurance processes in place to make sure that all babies are screened and that the results are accurate.

While newborn screening is reliable, as with any laboratory test it is possible to get a false positive result (where your baby does not have the condition but the test results were abnormal) and false negative results (where your baby has a condition but it is not detected). For this reason, the possibility of a condition should never be ruled out solely on the basis of the screening results.

Any signs or symptoms of a condition should be followed up immediately. For example, the screening test for cystic fibrosis will detect only 95 per cent of babies with the condition. The test may also detect a small number of healthy babies who are carriers of the gene for cystic fibrosis but do not have the condition themselves.

What happens to the sample cards after testing?

The newborn screening laboratory is located at Princess Margaret Hospital for Children. When testing is completed, the cards are stored securely for 2 years and then destroyed.

The cards are sometimes used to help develop or improve new screening tests. If this happens, your baby’s personal information will be removed prior to use. The confidentiality of all information regarding babies and their test results is protected by Commonwealth Privacy Legislation and hospital policies.

Translated information

More information

For more information about the screening program and the blood tests please:

  • contact your doctor or midwife
  • phone the WA Newborn Screening Program on 9340 8574.

 


Acknowledgements

WA Newborn Screening Program | Office of Population Health Genomics


This publication is provided for education and information purposes only. It is not a substitute for professional medical care. Information about a therapy, service, product or treatment does not imply endorsement and is not intended to replace advice from your healthcare professional. Readers should note that over time currency and completeness of the information may change. All users should seek advice from a qualified healthcare professional for a diagnosis and answers to their medical questions.

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