Newborns in Victoria to be tested for an extra 30 diseases
29 March 2002
Victorian newborns will soon be screened for an extra 30 rare diseases when they have their heel prick test, bringing them in line with babies in NSW, the ACT, SA and Tasmania.
They will still be tested for cystic fibrosis, phenylketonuria and hypothyroidism but tandem mass spectrometry will also enable screening for about 20 amino acid and organic acid metabolism disorders, plus 10 or more disorders of fatty acid oxidation.
This early detection may enable dietary or drug treatment to prevent death and intellectual impairment. Previously the disorders were only detected when a child became sick.
James Pitt, acting manager of biochemical genetics for Genetic Health Services Victoria at the Murdoch Children's Research Centre in the Royal Children's Hospital, said it was a large advance in newborn screening.
He said a pilot trial had been underway for 4 months and full-scale screening of the 65,000 babies born annually in Victoria would begin by the end of March, 2002.
The trial detected 2 cases of a rare fatty acid oxidation disorder that occurs in one in 25,000 babies. It can be fatal, but treatment involves a low fat, high carbohydrate diet and avoiding fasting.
Victoria's Department of Human Services will pay for the extra screening (52 cents per baby), enabling the service to remain free to users.
Mr Pitt said abnormal results were referred to the metabolic team who contact the child's doctor, who could be a GP, especially in country areas.
Director of the NSW Biochemical Genetics Service at The New Children's Hospital, Westmead, and International Society for Neonatal Screening president Associate Professor Bridget Wilcken will tell the society's scientific conference in Italy in June about progress with the NSW-ACT newborn screening program.
The service has detected 93 babies needing treatment, including 53 with the rare disorders, since the screening began in 1998.
Last Reviewed: 05 April 2002
- 1. Medical Observer Weekly 29/03/02
