Published 6 July 2009, doi:10.1136/bmj.b2451
Cite this as: BMJ 2009;339:b2451

Clinical Review

Science, Medicine, and the Future

Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing

Caroline F Wright, head of science1, Lyn S Chitty, reader and consultant in genetics and fetal medicine 2,3

1 PHG Foundation, Strangeways Research Laboratory, Cambridge CB1 8RN , 2 Clinical Molecular Genetics, Institute of Child Health, London WC1N 1EH , 3 Fetal Medicine Unit, Elizabeth Garrett Anderson Wing, University College Hospital, London NW1 2BU

Correspondence to: C F Wright caroline.wright@phgfoundation.org

The first 150 words of the full text of this article appear below.


Cell-free fetal DNA (and RNA) found in maternal blood during pregnancy can be used for non-invasive prenatal diagnosis of specific genetic traits
Potential applications include determining fetal sex, diagnosing certain single gene disorders, fetal blood genotyping, and screening for Down’s syndrome
Specialist centres already offer non-invasive determination of fetal sex and RHD typing for high risk pregnancies, and the technique will probably become widely available for other indications in three to five years
This technology offers safer, earlier, and easier antenatal testing than current standard practice but raises ethical, legal, and social concerns, including those around informed consent and equity of access
Research into non-invasive prenatal diagnosis is ongoing, and the public and healthcare professionals must be kept informed about the progress and limitations of this technology


The landmark discovery that cell-free fetal DNA circulates in maternal blood during pregnancy has stimulated research worldwide into many potential applications in obstetric . . . [Full text of this article]


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Relevant Article

Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing
Dagmar Schmitz, Wolfram Henn, and Christian Netzer
BMJ 2009 339: b2690. [Extract] [Full Text]

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