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ss nucleus - Easter 2009,  Non-invasive fetal tests - coming soon

Non-invasive fetal tests - coming soon

The NHS should prepare for advances in non-invasive fetal DNA tests, recommends the Foundation for Genomics and Population Health. With no risk of miscarriage, these are safer than current invasive methods (such as amniocentesis), and can be used much earlier in pregnancy. The technology uses cell-free fetal DNA in maternal blood. They can potentially detect Y chromosomes for those at risk of sex-linked disease, or an abnormal ratio of chromosomes (eg Down's syndrome).

A working group from the Foundation examined ethical and social issues raised; particularly the potential for sex selective abortions and determining paternity. They concluded, 'Implementation of non-invasive prenatal diagnosis for clinically significant genetic disorders is desirable, both to improve the quality and management of antenatal care and to facilitate parental reproductive choice.' Nevertheless, the greater ease with which abnormalities can be detected - and embryos discarded - is concerning for those who believe life to begin at conception.

The report recommends education of the public and healthcare professionals, to ensure that individuals are adequately informed. It cautions the NHS to ensure that the tests are thoroughly evaluated for reliability and effectiveness, as well as calling for auditing processes and best practice guidelines. Will these be enough?

BMJ 2009;338:b618

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