The test that could save babies' lives

There is a new Down Syndrome test that is more accurate and less risky for pregnant women. So why isn't it available in Australia?

It's call a cfDNA test and is just a simple blood test. Doctors are calling for it to be brought to Australian and subsidised by Medicare.

There are a number of tests doctors use to assess the risk of abnormalities during pregnancy. At 5-6 weeks the amount of fluid at the back of the babies neck is measured during an ultra sound. This is called an NT test. If the amount of fluid looks like more than normal, further testing is normally recommended. However these days it is common for all pregnant women over 30 to be offered further testing automatically.


But these tests carry risks.

An amniocentesis is the test commonly offered to pregnant Australian women to test for genetic abnormalities. It involves some of the amniotic fluid being removed from the amniotic sac using a needle through the tummy and is performed at approximately 16 weeks. However it poses the risk of miscarriage, infection and injury to the baby.

Another test offered in Australia is called a chorionic villus. It too involves a small needle but samples tissue removed from the placenta. It is used during high risk pregnancies to test for abnormalities before 15 weeks. But this too carries the risk of miscarriage.

Some women are spending over $1000 to send their blood overseas for the cfDNA test which isn't performed in Australia. They want the information without the risk to their unborn child.

The cfDNA also reduces the risk of a false positive result which occurs in 3.5 per cent of cases using amniocentesis.

Steve Robson is the Associate Professor of Obstetrics and Gynecology at the Australian National University. He told the Sun Herald, "That is the real role of this test - have the NT test and if that result is not reassuring then rather than having an invasive test, put that aside and look at having the DNA test done."

It is hoped that an application to have the test made available in Australia will be submitted and then it can be subsidised under Medicare.

Did you have an amniocentesis? Why, why not?

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