Prenatal screening advances with non-invasive blood test now available in Australia.

New, cutting-edge prenatal screening technology is about to become available in Australia for the first time, with a non-invasive blood test allowing expecting parents to screen for chromosomal disorders like Down syndrome.

By: Rachel Carbonell

The new, non-invasive blood test has only been available for two years, and up until now only via American companies at a substantial cost.

But the test is about to be offered by Victorian Clinical Genetic Services, a not-for-profit provider of genetic testing, based at the Murdoch Children’s Research Institute in Melbourne.

Medical director David Amor said there were good reasons to offer the test in Australia.

“There is certainly a strong benefit in having the laboratory scientists in close communication with the counsellors 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 is no substitute for having people in the same room”.

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

The company has invested in two machines at a cost of about $250,000 each, which will allow it to deliver the test in Victoria.

Associate Professor Amor anticipated the cost and time the test took would drop with it being 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.

“Out of that cost probably $50 to $100 is in shipping costs so the expectation is that we should be able to further reduce the cost by bringing the test in-house.”

While the new test currently only looks for chromosomal disorders, it is anticipated to develop quickly to include other potential abnormalities and disorders.

“As the technology improves — and it is important to remember we are just at the beginning of this translation of the technology — we will see the test advance and see a lot more conditions added onto those that can be tested for non-invasively,” Associate Professor Amor said.

Many women are already choosing the test, despite the cost.

“Anecdotally in some practices up to half of women are accessing this test,” he said.

“In the public sector the figure would be much less but if you take the example of the previous screening protocol which was done using a test called first trimester screening.


“We know that about 80 per cent of women in Victoria were accessing that test so potentially the non-invasive test could end up being offered or being taken up by 80 per cent of pregnant women and I think all that will be required is the cost of the test to drop a little bit further.

“I think this is a massive change, it can’t be it can’t be underestimated.

“We look back now and we see that for more than a decade basically every pregnant woman had pretty much the same tests offered to her and what we are going to see over the next five years is continual change, new tests coming on the market improved in various ways but definitely with non-invasiveness being a key component.

“I think the women have cast their vote that they want to have non-invasive testing, that is definitely their preference, so that is the direction that testing will go.”

Test raises new ethical questions.

Melbourne woman Kathryn Shinners is mother to newborn baby Benjamin.

She is one of an increasing number of women choosing to have the new non-invasive prenatal screening.

“So, it’s a genetic test that looks at the baby’s chromosomes and I find it amazing because my understanding is that they find the foetal DNA in my blood, so it’s a non-invasive test whereas some of the other tests are looking for genetic abnormalities first of all can’t be done until a bit later, like second trimester, and are invasive and can actually be at risk to the baby,” Ms Shinners said.

“So the advantage for me was that it would give me the information I wanted, it would give it to me at an early enough time to think about what we’d do with the information and it’s pretty accurate. It’s got a high sensitivity and low risk.”

However, the non-invasive prenatal test is not without its issues.

The test can reveal the sex of a foetus much earlier than previous non-invasive tests and that has led to some concern about the governance and ethics of its use.

Also, genetic testing is currently focused mostly on known genetic abnormalities, but as the testing technology advances it will be able to detect more and more anomalies about which less is known.

Genetic experts say in the not-too-distant future, prospective parents may end up with results that give a risk factor for a potential disability, which may pose more questions than the test can answer.

A version of this story was originally published on the ABC and has been republished here with full permission.

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