International Neonatal Screening Day 2022

28 June 2022

June 28 celebrates the second International Neonatal Screening Day (INSD) and is tribute to Dr Robert Guthrie, a microbiologist who laid the foundations for the detection of children with inborn conditions, enabling the improvement of children’s health.

This year we had the opportunity to talk with Hayley, who gave birth to her daughter Frankie at the Flinders Medical Centre. Like most babies, Frankie took the Newborn Screening Test offered to all newborns in South Australia.

The screening involves a midwife collecting a few drops of blood from a heel-prick and transferring onto filter paper which is then sent for testing at SA Pathology’s Newborn Screening Laboratory at the Women’s and Children’s Hospital (WCH).

“Both of my other two kids had their heel-prick test done and I never had actually known what was tested, I just knew it was beneficial, and then when Frankie was offered the test I of course said yes” Hayley explains.

After five days, Hayley was notified by the Women’s and Children’s Hospital (WCH) about a condition called PKU which had been identified from the test. PKU (Phenylketonuria) is a genetic disorder and occurs because the baby cannot process phenylalanine, but if left untreated significant brain damage occurs within a few months.

“We were called by a specialist at the WCH and provided with detailed information about the diagnosis. I knew absolutely nothing about PKU – I had never heard of the acronym. The following day we went into the hospital and a whole team was there to meet us. They were so supportive” says Hayley.

Screening is valuable because it leads to early treatment, reducing or avoiding permanent long-term health effects. Frankie was able to access this early treatment at the Women’s and Children’s Hospital, with her parents being supported by nurses and specialists.

Both Frankie’s parents were provided training to assist in her ongoing treatment. “We were trained how to do the heel-prick, which we do twice a week. Her diagnosis was very severe and so her levels were extremely high, she was not responsive to her medication, but the support from the hospital was amazing.”

“It’s all about early intervention – no matter what the child has been diagnosed with it’s being able to find out early in life and being able to equip yourself with the knowledge that life can be smoother for everybody” says Hayley.

We are proud to celebrate International Neonatal Screening Day (INSD) to raise awareness about the value of neonatal screening and we thank Frankie’s parents for speaking to us about the benefits of early treatment.