Newborn screening tests babies in the first few days of life for selected genetic and metabolic diseases that are often not apparent at birth. These congenital (from birth) diseases can progress rapidly to severe illness if not detected early and treatment started. Severe complications such as brain damage and possibly even death, can be prevented by this simple test.
Early detection and treatment of these conditions save lives.
The test must be done 1-3 days after birth.
Ask your paediatrician at birth, or register online before birth.
A nurse will come to your bed and collect blood by means of a heel prick to the baby.
Testing is done at North-West University.
Next Biosciences will inform you and your paediatrician of the results.
Amino Acid Disorders
Disorders of Fatty Acid Oxidation
Organic Acid Disorders
Disorders of Carbohydrate Metabolism
Most medical aids do offer coverage of some of the test fee; however it is taken out of medical savings.
*Please note that all prices include VAT and are subject to change.
Since we do not know which child may be at risk of a metabolic disease, international practice recommends that all children undergo newborn screening. By testing all children, we are assured of finding the few that are affected, for whom early detection and treatment of the disease is vital.
The ideal time is between 24-72 hours after birth but up to 7 days after birth is still acceptable. Your baby needs to have had a few feeds and started the digestion and metabolism of proteins, carbohydrates and fats (all found in breast milk and formula milk) to bring the disorder to light.
Sometimes, the laboratory at North-West University may request that the test is repeated. It does not necessarily mean there is anything wrong with your baby – it may be that the sample was not collected properly, and not enough blood was available for testing. Repeat tests may be requested in about 10% of cases.
24 conditions are screened for in the Newborn Screen, including Cystic Fibrosis and Galactosaemia.
If something is found to be abnormal with the results, a repeat test and sometimes additional blood and urine tests may be required. The request for further testing must not alarm you as it does not mean that there is something wrong with your baby. Often, when the first test suggests a problem, the results cannot be considered final until a repeat test is done. This requires a new blood sample. The medical team at Next Biosciences and your paediatrician will discuss the need for further tests with you.
If a test comes back positive for any of the disorders, your paediatrician will contact you immediately. Each disorder is treatable in its own way even though they are not curable. Your paediatrician will guide you through the explanation of the disease and the ways in which it can be treated. Next Biosciences is also able to organise a genetic counsellor to counsel you about the implications of the disease.
In most instances, treatment consists of dietary modifications, dietary supplementation, hormones and sometimes medication. If your baby has one of these conditions, it is very important that treatment is started as soon as possible.
Your baby will feel a little discomfort during the blood collection procedure and may cry a bit. The testing is not harmful at all.