Newborn screening: single test for 31 metabolic disorders
13 June 2003
Every newborn in Australia will soon be screened for 31 rare metabolic disorders in one test.
The heel prick blood test will still test for phenylketonuria, cystic fibrosis and congenital hypothyroidism, but the same sample will also be analysed for 31 inborn errors of metabolism. These errors include rare disorders in the urea cycle, and in amino acid, organic acid and fatty acid metabolism.
New research shows the technology (tandem mass spectrometry) detects 74 per cent more cases of the rare disorders than are diagnosed clinically. Most disorders can lead to substantial morbidity (illness) and mortality (death), but can be treated if diagnosed early.
Screening programmes in NSW, Victoria and SA also covered the ACT, Tasmania and Alice Springs, said Professor Bridget Wilcken, the clinical director of the NSW Newborn Screening Program and Biochemical Genetics Service at the Children's Hospital at Westmead.
Screening would hopefully be introduced by the year's end in Queensland and WA, and would cover the Northern Territory.
The study compared detection rates in 362,000 newborns screened using the new technology in NSW and the ACT (between April 1998 and March 2002) with rates of detection in babies born during the 6 preceding 4-year periods, before this type of screening was used.
'More cases of inborn errors of metabolism are diagnosed by screening with tandem mass spectrometry than are diagnosed clinically,' the researchers concluded (New England Journal of Medicine 2003; 348: 2304-12). However, the researchers noted that it is not known how many of the babies diagnosed with a disorder via screening would actually go on to develop symptoms of the disorder.
Last Reviewed: 16 June 2003
- 1. Medical Observer Weekly 13/6/03
