A South Australian study has shown that, although the rate of biochemical screening of newborn babies for disease is high, some babies are missing out on screening.

The study, by Michael Metz, Registrar at the Institute of Medical and Veterinary Science, Adelaide, and colleagues, is documented in the latest issue of the Medical Journal of Australia.

Biochemical screening can detect galactosaemia, congenital hypothyroidism, cystic fibrosis and up to 30 additional disorders and defects. Matching data from several databases, Metz and colleagues found that about 2.2 per cent of babies born in South Australia in 1999 were not screened. With 1 in 800 babies having a detectable disorder, a 2 per cent missed screening rate means there is the potential to miss a child with a serious disorder every other year.

Babies born at home, born to an Aboriginal mother, or born to a mother who normally resided in another state were at higher risk of missed screening.

Other factors associated with missed screening were having fewer than seven antenatal visits, prematurity, congenital abnormality in the baby, use of paediatric intensive care, discharge from hospital less than three days after birth, and death of the baby during the neonatal period.

In an editorial in the same issue of the Journal, Associate Professor Bridget Wilcken, Clinical Director of Biochemical Genetics and Newborn Screening Services at the Children's Hospital at Westmead, says that few preventive medicine programs are as effective as newborn screening.

"The consequences of not having a screening test might seem trivial to an individual family - only about one chance in 1000 that anything threatening would be missed. But, for every 1per cent of babies in Australia that are not tested, two or three babies per year with a treatable disorder could die or suffer permanent damage," Assoc Prof Wilcken said.

 "If we feel that newborn screening tests are valuable, then we need to ensure that every baby has a chance to benefit," Assoc Prof Wilcken says.

The Medical Journal of Australia is a publication of the Australian Medical Association.

CONTACT:     Dr Michael Metz, 08 8222 3114

                   Associate Professor Bridget Wilcken, 02 9953 3017(H) 02 9845 0000 (Pager)

                   Judith Tokley, AMA, 0408 824 306, 02 6270 5471