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Safer fetal test for genetic diseases on horizon

26 November 2008

A DROP of mum’s blood could soon reveal whether an unborn baby has a genetic disorder such as beta-thalassaemia or cystic fibrosis. Existing invasive tests carry a risk of miscarriage.

Babies only develop such diseases if they inherit two copies of the recessive gene responsible – one from each parent – and the new test promises to identify affected fetuses.

Dennis Lo of the Chinese University of Hong Kong and colleagues used a technique called digital PCR to count copies of the gene associated with beta-thalassaemia in blood samples from pregnant women, which contained fetal as well as maternal DNA. By noting…

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