The Victorian Department of Health has announced $1 million of funding towards the Victorian Newborn Bloodspot Screening (NBS) program to develop operational capacity and capability for Congenital Adrenal Hyperplasia (CAH) screening in 2022.

NBS, also known as the heel prick test, is delivered in Victoria by Victorian Clinical Genetics Services (VCGS) in partnership with the Victorian Department of Health. Newborn bloodspot screening identifies babies that have rare, but serious medical conditions. Early diagnosis and treatment can and does save lives.

VGCS screens around 80,000 Victorian babies annually through the program.

What is Congenital Adrenal Hyperplasia (CAH)?

CAH affects the adrenal glands, which produce a number of key hormones that play critical roles in the body’s function. Infants with CAH lack enzymes required to make these hormones, which can result in very low cortisol and salt levels and dangerously high potassium levels. Newborns with CAH are often misdiagnosed, as the presentation of CAH can be attributed to other more common conditions. If left untreated, newborns can become extremely unwell and may die suddenly in the early weeks of life.

VCGS Deputy Head of Biochemical Genetics Associate Professor Ronda Greaves said VCGS welcomed the support from the Victorian Department of Health to pilot screening of CAH in the NBS program.

“CAH, while fatal if left untreated, can be diagnosed through the simple heel prick test and treated through relatively inexpensive medication,” she said.

CAH occurs approximately in 1 in 15,000 babies, but research suggests the incidence is higher in ethnically diverse populations.

Jack’s story

When Jo and Dan brought their two and a half-week-old baby boy Jack to Bendigo Hospital, he was experiencing a life-threatening health crisis which caused him to be significantly dehydrated with extremely low levels of salt and high levels of potassium. His heart rhythm was abnormal and he required intensive care management at The Royal Children’s’ Hospital. The cause: undiagnosed CAH.

Doctors at the hospital ordered the appropriate tests and diagnosed CAH. Happily, baby Jack recovered well and was discharged home on the necessary medications to replace the hormones and electrolytes needed to treat CAH. He is now five years old and lives a very healthy and active life.

Credit: Jason Edwards

“When diagnoses are delayed, there is not only the significant impact and psychological distress to the family of their newborn baby becoming very unwell, but there is also a high economic and healthcare resource burden of such an admission. This can be prevented through NBS” said Dr Michele O’Connell, consultant endocrinologist at The Royal Children’s Hospital.

Continuous improvement

VCGS is committed to providing and continually improving screening and diagnostic testing for Victorian babies and families. Working in partnership with the Victorian Department of Health to include serious genetic conditions like CAH on the NBS program embodies this mission.

“We are proud to lead the implementation of CAH screening in the Victorian NBS program, to support quality care for Victorian babies,” said VCGS CEO Dr Damien Bruno.