Your newborn baby’s bloodspot screening test

The test is a simple procedure usually performed when your baby is between 48 to 72 hours old. A midwife or nurse collects the blood from your baby’s heel, enabling a few drops of blood to be captured on a card of blotting paper. Once dry, the card is sent for analysis at the State’s pathology service, PathWest.

Should you have a home birth or leave hospital early, you will need to make arrangements with your midwife for your baby to get tested.

The need for a repeat test is usually due to a problem with the collection of the first sample or because the test did not give a clear result.

A request for a repeat test does not necessarily mean your baby has a condition (most needing a repeat test do not have a condition) but it is important you arrange for the repeat test as quickly as possible.

If the test results are normal, you will not be notified of the results, but they will be posted to your midwife or the hospital where you gave birth.

If the test shows an abnormal result, you will be contacted immediately, and you and your baby referred to a specialist. The specialist will discuss the results with you and arrange for diagnostic testing.

An abnormal result is not confirmation that your child has a condition. The bloodspot test is a screening test. As such, it identifies babies who are at increased risk of a condition.

Diagnostic testing and an examination by a specialist will be needed to determine whether your baby has that condition. This further testing needs to be performed as early as possible so if treatment is needed, it too can begin as soon as possible.

After testing, bloodspot cards are stored securely at PathWest’s Nedlands premises for two years before being destroyed. On request in writing to PathWest, you may seek the return of your baby’s card.

While in storage, the card may be used to recheck your baby’s results or perform additional tests should your baby become ill. It may also be used to improve WA’s screening program or develop new tests. In these instances, your baby’s personal information would be removed first.

The card cannot be used in any other way without written consent from you, your baby’s guardian or a lawful authority such as a court. Commonwealth Privacy Legislation and hospital and PathWest policies protect the confidentiality of all information regarding babies and their test results.

Quality assurance mechanisms ensure that through WA’s Newborn Bloodspot Screening Program, bloodspot testing is available to all babies born in Western Australia and that results are valid.

Newborn bloodspot screening has been shown to be reliable but as with any laboratory test, false positive and false negative results can occur. For this reason, screening alone should never be used to rule out the possibility of a child having a condition.

If you have any suspicion your baby may have a health condition, you should follow up immediately.

The screening test for cystic fibrosis, for example, will detect only 95 per cent of babies with the condition. The test may also detect a small number of healthy babies who carry the gene for cystic fibrosis.

There are a number of conditions covered by screening, the most commonly detected are:

• Congenital Hypothyroidism which is caused by a lack of thyroid hormone which can lead to poor growth and intellectual disability. If found early and treated with thyroxine tablets, the child will grow and develop normally.
• Galactosaemia which occurs when a baby cannot break down the sugar component of milk, known as galactose. It can cause life-threatening damage to the brain and liver within a week of birth. A special milk-free diet can prevent these problems.
• Cystic Fibrosis which is a condition that results in sticky mucus in the lungs and gut. There are approved treatments that can help to prevent poor growth, chest infections and shortened lifespan.
• Congenital adrenal hyperplasia (CAH) whichis caused when babies are unable to make enough of a hormone called cortisol that controls how a baby reacts to normal stress. A hormone that controls salt and water balance may also be decreased in babies with this condition and this can lead to life-threatening complications. Early treatment with hormone replacement is important to correct the hormone levels and prevent complications.
• Amino Acid Disorders (such as phenylketonuria) which are caused by the baby’s inability to break down amino acids. Treatment with special diets and supplements can help prevent intellectual disability, seizures, organ damage and life-threatening complications.
• Fatty Acid Oxidation Disorders which are caused when a baby is unable to convert fat into energy. Treatment with a low-fat diet, dietary supplements, and the avoidance of fasting can prevent low blood sugar and life-threatening complications.
• Organic Acid Disorders which are caused when a baby is unable to convert amino acids into energy. Treatment with a low-protein diet and supplements can prevent vomiting, seizures and life-threatening complications
• Spinal Muscular Atrophy (SMA) which is a condition that breaks down nerves in the spinal cord that control the muscles. The muscles become very weak and babies with this condition have difficulty rolling, sitting, crawling, walking and breathing. New treatments can preserve these nerves and help keep the muscles working if a diagnosis is made early.

• Severe combined immune deficiency (SCID) which occurs when a baby cannot make important immune cells called lymphocytes. Without lymphocytes the baby is at risk of life-threatening infection. Early treatment with antimicrobials can prevent infections until longer term treatment can be commenced.