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Non-invasive prenatal testing

In February 2008, the HGC was asked by the Department of Health for advice about a new technique for testing blood samples taken from pregnant women in order to identify possible genetic conditions in their fetuses. 

The technique -- cell-free fetal nucleic acid testing -- works by identifying DNA from the fetus that is present in the maternal circulation.  The advantages of this technique are that it can be carried out at a comparatively early stage stage of pregnancy and that it does not require an invasive sampling procedure that can cause miscarriage in a very small percentage of cases. 

At its plenary meeting in February 2008 the Commission heard about aspects of the technique from a number of invited experts.  A record of the meeting and copies of the presentations can be accessed here

The HGC concluded that the evidence available showed that the technique had promise as a diagnostic strategy for certain conditions and urged that proper evaluations be carried out to quantify the advantages and risks, to support its introduction as a clinical service.

The HGC's subsequent advice to the Department of Health can be read here.

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