North-West University: Newborn screening saves lives

The first days of a newborn’s life are a critical period, offering a unique opportunity to safeguard a child’s future health.

Newborn screening: crucial first step

These precious hours can be a turning point, and the North-West University (NWU) is committed to optimising this time through newborn screening.

Dr. Ilse du Preez, the driving force behind the Centre for Human Metabolomics (CHM) at NWU, is deeply passionate about newborn screening.

“As a parent myself, I can’t imagine the heartbreak of being unable to help my child,” she explains. “Newborn screening is more than a service; it’s a beacon of hope.”

How newborn screening works

Newborn screening is a straightforward process involving a simple heel prick to collect a few drops of blood from a baby within the first three days of life. This sample is then analysed for 22 genetic metabolic disorders.

These conditions can cause harmful substances to accumulate in the body, leading to severe, lifelong disabilities if undetected.

Early diagnosis is crucial because it allows for prompt treatment, often as simple as dietary changes, minimising or even preventing the development of these debilitating conditions.

The NWU’s CHM is home to the National Metabolomics Platform (NMP), the sole laboratory in South Africa equipped to conduct these critical tests. With nearly four decades of experience and state-of-the-art technology, the NMP team treats each sample with the utmost care.

Importance of newborn screening in South Africa

While these conditions are relatively rare, any baby can be affected. The challenge in South Africa lies in the limited number of metabolic specialists.

This scarcity can lead to delayed diagnoses, missed opportunities for intervention, and significant, lifelong consequences for both the child and family. Early detection through newborn screening is a powerful tool to counteract these challenges.

For cases where a metabolic disorder remains unidentified after the initial screening, there’s hope in the Nngwe initiative. This collaborative network employs advanced technologies to diagnose previously undiagnosed rare diseases.

Dr. Du Preez emphasises the transformative power of newborn screening. “Don’t gamble with your child’s health,” she urges parents.

“A simple test can make a world of difference.” By prioritising newborn screening, South Africa can invest in the health and well-being of its youngest citizens.