New non-invasive test for Down’s syndrome

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  • New non-invasive test can detect Down's syndrome

    A new non-invasive test for pregnant women to determine whether their baby has Down’s syndrome has been developed.

    The new technique involves taking a blood sample from the mother and looking for chromosome fragments.

    Currently pregnant women can choose to have a procedure called amniocentesis which detects chromosomal abnormalities. However the test involves inserting a long needle into the stomach and extracting fluid from the womb which carries a small risk of miscarriage or infection.

    Around one in 100 women who opt for the procedure miscarry as a result.

    The new method was used successfully in a study on 18 pregnant women to determine any signs of chromosomal abnormality.

    Down’s syndrome occurs when a foetus has three copies of chromosome 21 instead of two. The condition can cause physical and intellectual impairment.

    Speaking of the new procedure, lead researcher Professor Stephen Quake from Stanford University, California commented: ‘Non-invasive testing will be much safer than current approaches. The earlier you know you’ve got a foetus with Down syndrome, the better able you are to prepare.’

    Carol Boys, chief executive of the Down’s Syndrome Association, told the BBC: ‘There is no question that these non-invasive tests will be introduced in the next few years.’

    She added: ‘It’s therefore incredibly important that potential parents are given accurate information on Down’s syndrome before they make a choice about whether to terminate or not. We don’t consider Down’s syndrome a reason for termination but we recognise that bringing up a child with Down’s syndrome isn’t right for everyone.’


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