Test opens prenatal genetic diagno...( The new test can also be performed much...)

The new test can also be performed much earlier in pregnancy, say its developers Dr Ian Findlay and Mr Darryl Irwin of the Australian Genome Research Facility in Brisbane. It should open the opportunity of prenatal genetic testing to a wider group of women. "This test will focus conventional prenatal testing much more effectively," said Dr Findlay.

The new test is based around PAP smears of the type normally taken for cancer screening. Cells from the foetus are isolated, genetically identified, and screened for a wide range of abnormalities such as Down syndrome and cystic fibrosis.

Current prenatal tests, such as amniocentesis and chorionic villus sampling, involve putting a needle into the womb to obtain fluid. This carries with it about a one per cent chance of miscarriage. The risk of miscarriage and the high cost of testing mean that these invasive techniques are offered only to mothers over 35 or those at high risk. And only one in 20 indicate an affected pregnancy.

Because only older women are tested, about 80% of Down syndrome pregnancies in younger mothers in Australia are currently not identified. The new prenatal test can safely be offered to all pregnant women. It also ensures that invasive tests, with the associated miscarriage risk, are only performed when necessary for confirmation.

A further advantage of the new test is that it can be easily performed by general practitioners. The samples can then be sent to laboratories through the post for analysis, allowing greater access to prenatal testing in rural Australia and worldwide.

The study which led to the new test, undertaken in Brisbane hospitals, collected PAP samples from 600 women who were between 5 and 35 weeks pregnant. The research team now hopes to perform testing much earlier in pregnancy, giving couples more time to make informed choices. Current amniocentesis testing is performed between 16 and 20 weeks of pregnancy with results taking 2 to 3 weeks.
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Contact: Niall Byrne
media@geneticsmedia.org
61-408-551-866
International Congress of Genetics
8-Jul-2003

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