Newborn screening (NBS) is internationally recognised as essential in preventive healthcare practices. It involves the testing of newborn babies for treatable genetic conditions or inborn errors of metabolism that may not be apparent at birth.
All newborn babies’ tests in South Africa are screened by the NBS laboratory at the North-West University (NWU).

Prof Chris Vorster, director of the Centre for Human Metabolomics, says these conditions can progress rapidly to severe illnesses, disabilities and even death. While the incidence of any one of these conditions is quite low, the combined incidence may be as high as one in a thousand babies.

Screening still rare in SA

NBS is practised by the entire developed world and many developing countries. “Unfortunately, there is no official NBS policy in South Africa and therefore no national screening programme, and we screen less than one percent of the population in this country.

“We screen about 500 blood samples every month, which is a far cry from the daily screening of more or less 140 000 babies in the rest of the world.”

Prof Vorster says this invaluable service to newly born babies has saved many South Africans from certain disabilities and death.

Inborn errors of metabolism (IEM) are rare, but cumulatively they affect approximately 1 in 500 newborns, and therefore represent a special challenge in general and paediatric practice.

He says with early diagnosis and treatment, problems can be avoided, including biochemical disturbances. “These treatments are sometimes very cost-effective and simple, and with the correct dietary plan, patients can lead a very normal life. Some of the illnesses, like Isovaleric Acidemia, are mainly caused by the inability of the body’s natural enzymes to break down proteins.”

Tommy’s success story
One of the best success stories at the NWU is the one of Tommy*. His older brother died shortly after birth, and when Tommy* developed health problems at an early age he was tested at the Metabolomics laboratory at the NWU. His diagnosis was Isovaleric Acidemia and with the correct medication he was able to live a normal life.

Tommy* has ended up as a healthy, sporty young man, receiving his honours degree in political studies at the NWU, the exact place where he had been diagnosed more than 20 years before.

Prof Vorster says they use complex and modern technology to screen the newborns’ blood, and expert technologists and interpretation specialists work hard to keep to the standard turnaround time of testing blood samples to five working days.

The team works in collaboration with several universities in the Netherlands, as well as acclaimed NBS laboratories in Australia, New Zealand and the USA to assist in IEM diagnosis and research.

The NBS Laboratory participates in an external quality control programme run by the Centre of Disease Control and Prevention in Atlanta, Georgia, Prof Vorster says. “This is to ensure that all results meet the international standard as set by this centre.”

*Not his real name

Watch the following video about newborn screening: