WA babies to be screened for rare immunological disorder

  • Severe combined immunodeficiency disorder (SCID) added to newborn screening
  • SCID is first immunological condition to be included in newborn heel prick test
  • Screening could detect SCID in up to three to four Western Australian babies a year

Screening for severe combined immunodeficiency disorder (SCID) has begun as part of Western Australia’s newborn heel prick test – paving the way for early detection and treatment for this serious genetic condition.

SCID becomes the first immunological disorder to be screened for through WA’s Newborn Bloodspot Screening Program (NBS) – made possible by advances in screening technology.

Infants with SCID appear healthy at birth but are highly susceptible to infections. They typically present with severe or persistent infections – often between the ages of 1 to 2 years, but sometimes younger.

With early detection, SCID can be treated effectively with antimicrobial therapies and a bone marrow or stem cell transplant.

Those diagnosed at older ages can have poorer outcomes, including severe disability or even death.

While SCID is very rare – it is anticipated up to three or four babies a year will be diagnosed thanks to its inclusion in the newborn heel prick test – the impact on the health of affected babies is significant and early detection will enable life-saving interventions.

WA’s NBS program – overseen by PathWest laboratories – has offered voluntary screening to all babies born in the State for more than 50 years.

It screens around 33,000 babies across the State every year.

Through early detection of around 27 serious but treatable major conditions, some 50 to 60 babies a year in WA benefit from early specialist treatment.

As stated by Health Minister Amber-Jade Sanderson:

“The McGowan Government is pleased to announce the expansion of our Newborn Bloodspot Screening Program to include SCID.

“Including this rare immunological disorder in WA’s newborn heel prick test will be life-changing for those affected newborns and their families.

“Newborn screening programs like ours are vital – giving babies with rare conditions the chance to receive treatment earlier than they otherwise would.”

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