What you don’t know about newborn screening

By Next Biosciences

13 October 2016

A simple blood test performed on a newborn baby within the first few days of its life can alert medical staff to certain serious metabolic or endocrine conditions. 

These disorders involve the nutrient metabolism in the body, leading to abnormalities in body chemistry. Our bodies need proteins, fats and carbohydrates that must be broken down and absorbed so that we can build body tissues like muscle, bones, blood, nerves and brain tissue. Once symptoms appear, they are often irreversible, resulting in severe health and developmental problems, if not death. 

Newborn screening is now considered international best practice, and is included in public health programmes across the United States, Europe, and numerous other countries. Because this is not yet the case in South Africa, many families elect to get their babies screened privately. 

According to Dr Yvonne Holt, Chief Medical Officer at Next Biosciences, newborn screening involves a simple blood test; the sample should ideally be taken between 48 and 72 hours after birth. 

“Most babies are born healthy. However, some infants have serious genetic, metabolic and endocrine disorders not apparent at birth. These babies generally come from families with no previous history of a condition. 

Newborn screening allows doctors to identify and treat these conditions before they progress to severe illness. Early detection and treatment mean these children can grow up healthy and develop normally,” she says. 

Research compiled by Dr Chris Vorster, head of the Centre for Human Metabolomics at the Potchefstroom campus of North-West University, estimates that even in developing countries such as Thailand and Brazil, 97% and 80% of newborns, respectively, are screened shortly after birth. 

By contrast, there is no legislation or even recommendations for testing in South Africa. Dr Vorster says that in 2012, fewer than 1% of newborns were screened. Statistics gathered by his team indicate that some metabolic diseases are quite common in this country. 

“In South Africa, it is not normal hospital procedure to do newborn metabolic screening – this means that parents are responsible for discussing the test with their doctors. This is an impossible task if parents are unaware of newborn screening and its benefits,” says Dr Holt. 

“We encourage parents to ask their doctors about newborn screening so they can make an informed decision about whether private testing is appropriate for their child.” 

For more information about newborn screening, visit our page.