Genetic condition that affects the adrenal glands added to newborn screening test
Screening for a genetic condition that affects the adrenal glands, and if left untreated can cause sudden death in infants, will be developed in 2021-22 as part of the Newborn Bloodspot Screening (NBS) Program in Victoria.
The Victorian Government has announced $1 million in funding to develop operational capacity and capability for Congenital Adrenal Hyperplasia (CAH) screening through the pilot program in 2021-2022.
NBS, also known as the heel prick test, is delivered by Victorian Clinical Genetics Services and the Department of Health. Newborn bloodspot screening identifies babies that have rare but serious medical conditions. About 80,000 Victorian babies are screened through the program annually.
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. CAH occurs in about in 1 in 15,000 babies.
VCGS Deputy Head of Biochemical Genetics Associate Professor Ronda Greaves said VCGS welcomed the support from the Victorian Government for the 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.
VCGS CEO Dr Damien Bruno said VCGS was proud to lead the implementation of CAH screening in the Victorian NBS program, to support quality care for Victorian babies.
“We are committed to providing and continually improving screening and diagnostic testing for Victorian babies and families,” he said.
Minster for Health Martin Foley said the Andrews Labor Government was proud to deliver $1 million to Victoria’s Newborn Screening Program to pilot CAH screening in babies.
“The earlier babies at risk of this serious condition are detected – the quicker they can be treated. This investment is about saving lives and giving our newborns the best start in life,” he said.
“It has been more than 20 years since a new condition has been added, making this a significant milestone in the history of newborn screening in Victoria.”
CEO of Rare Voices Australia, Nicole Millis said RVA welcomed the Victorian Government’s announcement to implement newborn bloodspot screening for congenital adrenal hyperplasia.
“NBS is an important program to support the earliest possible diagnosis of this rare disease. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better patient outcomes as it enables the best immediate treatment and care. For CAH families, an early diagnosis can be life-changing and at times, lifesaving,” she said.