BBC Home
Explore the BBC
BBC News
Launch consoleBBC NEWS CHANNEL
Last Updated: Wednesday, 16 July, 2003, 09:50 GMT 10:50 UK
Down's test 'at five weeks'
Genetics test
The tests could be carried out on cells taken from smears
Scientists have developed a test which could detect conditions such as Down's Syndrome or cystic fibrosis when a woman is as little as five weeks pregnant.

Parents could also find out the gender of their child using the test.

Currently, doctors are only able to carry our potentially dangerous amniocentesis tests for abnormalities like Down's when a woman is around four months pregnant.

This new genetic test, based on the same technique as a cervical smear, would allow doctors to obtain foetal cell samples in a much less invasive procedure.

What we want is as good a test as possible as early as possible
Dr Simon Fishel, Centres for Assisted Reproduction
The Australian scientists behind the test say, which could be carried out by GPs, could be available in as little as two years.

They say it would give parents more time to make an informed choice about whether they want to continue with the pregnancy.

They said it could also lead to prenatal genetic testing for all women.

Isolating cells

Women are currently offered the amniocentesis test and chorionic villus sampling, carried out at 11 weeks, to assess whether their baby has Down's syndrome or other abnormalities.

But the tests involve a thin needle being inserted into the womb and carry up to a 1% risk of miscarriage.

This means they are only offered to women who are at high risk.

The researchers estimated around 80% of Down's Syndrome pregnancies in Australia are missed because of these rules.

The new test works by taking foetal cells, which are present in the cervix, using a swab - in the same way cervical smears are carried out.

Scientists claim it is the first time it has been possible to isolate foetal cells from smears.

The cells are DNA tested to confirm they belong to the foetus rather than the mother.

Scientists then carry out the same genetic tests on the cells as they would if they had been extracted in an amniocentesis of CVS test.


Researchers from the Australian Genome Research Facility in Brisbane carried out the test on 600 women who were between five and 35 weeks pregnant.

The babies will also tested when they are born so the results can be compared.

Dr Ian Findlay, who led the research, told a British newspaper: "This will focus prenatal testing much more effectively.

"The problem with current tests, apart from the length of time they take, is that often it's only high-risk groups that have them.

"What we can do is make sure, through ease of use and the low cost of our test, that everyone can have access to our genetic screening, and have it far earlier than before."

Dr Simon Fishel, director of the Centres for Assisted Reproduction clinic in Nottingham, told BBC News Online: "The question is whether these tests have the accuracy and reliability that we can get with the amniocentesis and CVS.

"What we want is as good a test as possible as early as possible. We don't want a test that can be carried out earlier, but which isn't quite as reliable."

Dr Fishel said the test would allow women and their partners to face the emotional difficulties of whether or not to have a termination much earlier in their pregnancy.

But a spokesman for the Royal College of Obstetricians and Gynaecologists warned doctors using genetic testing had to ensure parents received proper counselling about what the results could show.


A spokeswoman for the Down's Syndrome Association said: It is inevitable that there will eventually be a non-invasive diagnostic test that can be done earlier in pregnancy than amniocentesis without the risk of miscarriage.

"However, this test is still in clinical trial so it is too soon to tell whether or not it is effective.

"As far as the DSA is concerned we are anxious that if it is introduced in the UK it must be supported by full and accurate information about Down's syndrome and non-directive counselling."

The research was presented to the International Genetics Congress in Melbourne.

'Accurate' Down's test hailed
10 Mar 03  |  Health
Down's babies sought for trial
19 Aug 02  |  Health
Down's screening 'won't work'
04 Jul 02  |  Health
Test for Down's 'waste of money'
04 Mar 00  |  Health
Test safer for unborn babies
06 Feb 00  |  Health

The BBC is not responsible for the content of external internet sites


News Front Page | World | UK | England | Northern Ireland | Scotland | Wales | Politics
Business | Entertainment | Science/Nature | Technology | Health | Education
Have Your Say | Magazine | In Pictures | Week at a Glance | Country Profiles | In Depth | Programmes
Americas Africa Europe Middle East South Asia Asia Pacific