Australia gets its first NIPT genetic testing lab

 Photo: Getyy Images

A Brisbane laboratory is the first in Australia to receive accreditation to perform landmark tests to detect genetic abnormalities in unborn babies at just 10 weeks.

Non-invasive prenatal testing (NIPT) checks for certain genetic abnormalities such as Down syndrome, Edward syndrome and Patau syndrome by testing the mother's blood.

A recent non-invasive prenatal screening test can detect genetic abnormalities at just 10 weeks.
A recent non-invasive prenatal screening test can detect genetic abnormalities at just 10 weeks. Photo: Getty Images

The test had been around in Australia for a few years, however blood samples had to be sent to America or China to be tested.

It wasn't until just under a year ago that Genomics for Life (G4L), a Herston laboratory specialising in molecular genetic testing for cancers and inherited diseases, started working with one of the world's largest sequencing facilities to bring the non-invasive screening test to Australia.

The results from NIPT tests are greater than 99 per cent accurate and mean fewer invasive diagnostics need to be performed, G4L medical director and pathologist Glenn Francis said.

"We have had screening for Down syndrome using biochemistry on the mother's blood for quite a long time, 10 or more years, but that test is not as accurate," Dr Francis said.

"Previously, if patients came up as high risk they would have to go and have a diagnostic procedure done which is usually sampling the baby's cells, taking a needle into the fluid surrounding the baby.

"That is obviously an invasive procedure, it is uncomfortable for the mother and there is a small risk to the baby by doing that test.


"With this new test, because it is more accurate, the number of those diagnostic procedures has actually dropped."

Dr Francis said the non-invasive test, which could be conducted at just 10 weeks, meant expectant parents were able to make informed choices early on.

"While a diagnostic procedure may still be necessary for some mothers, the increased accuracy of the non-invasive test enables avoidance of unnecessary invasive procedures which can pose a small risk to the baby."

G4L medical director and pathologist Glenn Francis.
G4L medical director and pathologist Glenn Francis. Photo: Supplied

Dr Francis said the procedure had dropped in price since it's introduction, from $2000 to about $450-$550, and said it was a "major win" for parents and the Australian economy.

"Our accreditation was completed late last year, we were the first laboratory in Australia to actually get accreditation for this particular test," he said.

"This technology is at the forefront of modern medicine and we are proud to be the first in Australia to offer this service to expectant mothers."