World-first clinical trials of same-day Down syndrome test

University of Queensland scientists are conducting the world's first clinical trials of a same-day diagnostic test for chromosomal abnormalities in unborn babies including Down syndrome.

The trials, underway at the Australian Genome Research Facility (AGRF), have so far confirmed the test's 100 percent reliability and accuracy.

The AGRF, jointly run by UQ and the Walter and Eliza Hall Institute, forms part of the University's new $105 million Institute for Molecular Bioscience due to be constructed at the St Lucia campus by 2002.

According to AGRF senior scientist Dr Ian Findlay, the test could be commercially available within 12-18 months after the further testing of around 300 women.

"Existing tests for chromosomal abnormalities including Down syndrome, Edwards syndrome and Pataus syndrome take up to three weeks to give parents a result," Dr Findlay said.

"They involve testing between 10 and 15ml of amnio fluid and first growing cells before testing can take place. Our test requires just 1ml of fluid and can deliver a result the same day.

"This means parents can decide on the next step sooner and do not have to experience the despair of waiting three weeks for an answer.

"The secret of the test is its sensitivity and usage of state-of-the-art PCR and DNA sequencing technology. Multiple markers or regions on chromosomes can be examined instead of one at a time."

While the diagnostic test was developed at the University of Leeds in the UK, the current testing at the University represents the first clinical trials of the procedure.

Dr Findlay said the same-day test in combination with distant consultation techniques such as telemedicine would allow many pregnancies to be managed in patients' own home-towns.

"This is especially important in a vast country such as Australia where patients often have to be flown from small country towns to major cities for specialised medical investigations. The inconvenience, stress, risks and costs involved are significant," he said.

Prenatal diagnosis is a multi-million-dollar service within Australia with more than 60,000 tests carried out each year, according to Dr Findlay.

Dr Findlay said he was attracted to move his research to the AGRF because of its superior molecular biology facilities, prestige and nearness to major hospitals.

Women involved in the clinical trials are patients at the Mater Hospital and are selected because of their high risk for abnormal pregnancies including their age (35 years and over), previous medical histories or abnormal ultrasound results.

For more information, contact Dr Ian Findlay (telephone 07 3365 9118).