Early detection saves lives.
Early diagnosis and treatment ensure optimal living, allowing an individual to contribute to society and not become a long-term social burden.
FirstScreen offers a full management service to both the doctors and the patients: from the time a patient signs up for NBS until the results are issued to the paediatrician by:
Newborn Screening can be done on any newborn through the pathology labs – Ampath, Lancet and Pathcare. FirstScreen works with these labs and Northwest University (NWU) to facilitate the testing and make it available to as many newborn babies as possible.
Newborn screening (NBS) is the process of testing newborn babies for genetic, endocrine and metabolic diseases.
The disorders which are screened for may otherwise not be detected before developmental disability or death occurs. Newborns with these disorders typically appear normal at birth.
Early detection, diagnosis, and treatment of certain genetic, endocrine, or metabolic disorders can lead to significant reductions of death, disease, and associated disabilities. Therefore, newborn screening is recognised internationally as an essential, preventive health program for early identification of these disorders. This type of program has an impact not only on the health and wellbeing of babies, but also on their families and the community they live in.
Every newborn has the right to have a newborn Screening test done.
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.