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Non-invasive screening to detect genetic abnormalities in fetus

Soon, hospitals in Australia will use a new, cutting-edge screening technology, allowing a non-invasive blood test to offer parents screening results for chromosomal disorders like Down syndrome.

The non-invasive blood test has been available for the past two years only in the United States to companies who could afford the substantial cost.

However, the Victorian Clinical Genetic Services, a not-for-profit provider of genetic testing, will offer the test at the Murdoch Children’s Research Institute in Melbourne.

According to medical director David Amor, there are good reasons to offer the test in Australia.

“There is certainly a strong benefit in having the laboratory scientists in close communication with the counselors who are in turn in close communication with the patient,” Associate Professor Amor said. “Having samples shipped backwards and forwards across the world and having information passing by email or other forms of communication are no substitute for having people in the same room”.

Before the test being available, women could have a first-trimester screening test which gave statistical odds of having a baby with chromosomal abnormality, or wait until late stages of pregnancy when an invasive test involving extracting genetic material with a long needle from either the placenta or the amniotic fluid.

Two machines have been purchased, each costing about $25,000, so tests can be performed in Victoria.

Associate Professor Amor estimates the cost and time needed for the test would drop as it is offered locally.

“When testing was first offered in Australia it was up towards $2,000 and that was only two years ago,” he said. “We’ve seen the cost decrease to around the $500 mark at the moment so I think by any standards that’s a dramatic reduction in cost.”

Despite its advantages, the test does raise several issues.

The test can reveal the sex of the fetus much earlier than previous non-invasive tests, and this generated some concern about the ethics behind using the test.

Currently, genetic testing focuses mostly on known genetic defects, but later versions of the test could detect additional abnormalities of which less is known.

Non-invasive screening to detect genetic abnormalities in fetus

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