|
 What is The Newborn Screening Test?
Screening newborn babies for health problems (congenital disorders) is an established worldwide public health practice. The Newborn Screening Test is done using a small sample of blood collected when the baby is about 2 days of age. From this sample, several tests are performed to detect rare, but serious health problems, often before there is any sign that the problem exists. Early diagnosis and appropriate treatment can greatly reduce, and often prevent, the effects of the problem for the rest of the individual’s life.
The Newborn Screening Test blood-spot sample is collected by a midwife in the hospital where your baby is born. If your baby is not born in a hospital or if you and your baby are discharged earlier, the blood-spot sample may be collected at home. To collect the blood, the baby’s heel is pricked, and a small piece of special filter paper is soaked with four small spots of blood and allowed to dry. The blood-spot is sent to the Women’s and Children’s Hospital where it is tested and the results sent back to the hospital or midwife within a week.
Over 30 different health problems can be detected using these blood-spots. These include Phenylketonuria (PKU), Galactosaemia, Congenital Hypothyroidism (CHT), Cystic Fibrosis (CF) and several conditions affecting the breakdown of fats (fatty acid oxidation defects) and proteins (amino acid metabolism disorders). Using advanced technology known as Tandem Mass Spectrometry, several tests can now be performed on each blood-spot.
Your doctor or midwife will contact you if there is any suggestion that your baby might have a problem. A repeat of this test may sometimes be required because of a poor sample or for a slightly elevated result.
What will my baby be tested for? 
1 CONGENITAL HYPOTHYROIDISM (CHT)
In CHT, the thyroid gland of these babies does not produce an adequate amount of thyroid hormone. If this condition is not picked up early by the Newborn Screening Test, the problem usually does not become obvious until the baby is several months old, when children may have a delay in development and growth. Early detection and treatment with thyroid hormone tablets allows these children to grow and develop normally.
2 CYSTIC FIBROSIS (CF)
CF is an inherited problem, mostly affecting the lungs (sticky mucus) and gut (digestion of food). Children and young people with CF are prone to serious chest infections and have problems digesting and absorbing food, causing serious health issues. The newborn screening test for CF detects 96% of all babies with CF. Finding the problem early has been shown to significantly improve the life of children with CF, although it does not prevent all problems.
3 PKU AND OTHER AMINO ACID METABOLISM DISORDERS
These are a group of inherited health problems related to defects in the break down of amino acids. PKU, the most common amino acid metabolism disorder is a problem where the baby cannot break down a particular amino acid (one of the building blocks of proteins) called phenylalanine. In untreated babies, high levels of phenylalanine and other chemicals formed as by-products will cause brain damage. A baby with PKU is normal at birth, but if untreated significant brain damage will occur within a few months. Treatment by a special diet started soon after birth, allows these babies to develop normally.
In addition to PKU, there are other, rarer disorders of amino acid metabolism, which the Newborn Screening Test also detects.
4 GALACTOSAEMIA
Babies with Galactosaemia cannot break down a milk sugar called galactose. In the body, lactose (one of the main sugars in milk) is normally broken down to galactose and glucose. High levels of galactose can cause major health problems such as cataracts and liver damage. Without treatment, on rare occasions, it can be fatal. A special diet can prevent most of these health problems.
5 FATTY ACID OXIDATION DEFECTS (FAOD)
Defects in the breakdown of fatty acids are a group of health problems discovered in the early 1980s.
Babies with a FAOD cannot use their stored fat to provide energy during a time of stress, causing the body to use all of its blood sugar instead. This results in low blood sugar levels that can be fatal if not treated. Children with a FAOD are generally well unless they have a viral infection (cold or flu) or go for longer than usual between meals, when they may develop a severe problem. Treatment for this group of disorders usually involves a special diet and avoiding prolonged periods of fasting.
6. SCREENING TESTS FOR OTHER DISORDERS
The South Australian Newborn Screening Centre is committed to maintaining the highest level and quality of service. As part of this continuing service, new developments in screening tests are regularly included in pilot programmes used to determine whether or not these new tests are beneficial to the long-term health of babies.
7. PILOT PROGRAMME FOR LYSOSOMAL STORAGE DISORDERS
The SA Neonatal Screening Centre is currently conducting a pilot study for the newborn screening of Lysosomal Storage Disorders (LSD). The study will be used to determine the effectiveness of the programme in identifying babies who are at risk of having a LSD.
The LSD are a group of rare inherited health problems, which affect 1 in 7,700 babies born in Australia. Infants with a LSD will develop a range of health problems such as bone and joint problems, breathing difficulties, developmental and behavioural problems. Early detection of these disorders enables counselling of families, close monitoring of the child and an opportunity to provide appropriate medical treatment.
What is the chance my baby will have one of these disorders?
These health problems are rare and are found in 1 out of every 800 babies born in Australia. In Australia, on average,75 babies are born with congenital hypothyroidism, and about 105 babies are born with Cystic Fibrosis each year.
20 babies are born with PKU each year, and 5 babies with Galactosaemia. Fatty Acid Oxidation Defects affect about 20 babies each year.
 How is the blood test performed?
The test is performed by pricking the infant’s heel and putting four drops of blood on a special filter paper. These blood spots are allowed to dry and are sent to the Women’s and Children’s Hospital in Adelaide, where they are tested. The results of the tests will then be sent to your hospital, doctor or midwife within a week.
Because the disorders tested for are rare, the great majority of infants tested will show no signs of being affected with a particular disorder. Only 1 in 800 babies tested will be affected with one of these disorders.
If your child’s test shows an abnormal result, you will be notified immediately by your doctor who will provide all the necessary details on what to do next. This will almost always require further testing in order to confirm or exclude the disorder in your baby.
Why is this test done?
The test is done to find out whether your baby has an inherited health problem for which early treatment can help to greatly reduce, and often prevent the effects of the problem for the rest of the child’s life. The tests are done when the baby is well, before any signs of a problem exists. This allows the baby to receive appropriate treatment early in order to stop very serious problems such as mental retardation and even death from occurring.
For example, if an infant affected with PKU is left untreated, they will develop significant brain damage within a few months. Treatment for these infants involves the use of a special diet given soon after birth. By maintaining the diet for the rest of their lives, these infants will go on to grow and develop normally.
But my family has no history of any of these health problems
Parents who have no family history of problems and who already have had healthy children can still have children with these health problems. In fact, most children with these health problems come from families with no previous history of the condition.
How can I have my baby tested for all of these health problems?
All samples sent to the South Australian Neonatal Screening Centre are tested for all of the disorders outlined above in "What will my baby be tested for?".
For those parents living in South Australia, Tasmania and the lower part of the Northern Territory, you will be offered these tests by your midwife or doctor, 48 hours after you have had your baby. If your baby is not born in a hospital or if you and your baby are discharged earlier than 48 hours after birth, the blood-spot sample may be collected by an experienced practitioner at home, in a doctor’s rooms or at a pathology collection centre.
Not all states in Australia test infants for the full range of disorders. Parents should refer to their local health authority that can provide information on the specific disorders tested for in your area.
For children born overseas, some countries offer either some or all of these tests as a matter of routine. Some countries have these tests available by request, while other countries do not offer these tests at all. The South Australian Neonatal Screening Centre provides a world class testing service for infants born in countries other than Australia. Contact your doctor or Paediatrician or follow the link "How to organise a test" for more information on ordering these tests.
Storage of blood-spot cards.
The National Pathology Accreditation Advisory Council of Australia recommends that the newborn screening dried blood-spot cards be stored for 50 years. Information regarding individuals tested and the test results are securely held within the Women’s and Children’s Hospital in accordance with Hospital policy and guidelines governed by state confidentiality laws. If you have any difficulty with this, please contact us.
Further information.
For more information about the neonatal screening programme, please contact:
Scientific
|
