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

doi:10.1136/bmj.b2451

From trainee to consultant, BMJ Group offers doctors around the world tailored information, special events, learning resources and recruitment services at every step along their career path.

... by doctors, for doctors, for patients
We are open for entries!

Online learning

BMJ Learning

High-quality CME / CPD for doctors and other healthcare professionals. BMJ Learning features hundreds of accredited, peer-reviewed learning modules in text, video, and audio formats. Find out more

Courses and Qualifications

BMJ Masterclasses

BMJ Masterclasses, led by experts, help clinicians to use the latest evidence and recent guidelines in practice and meet their CPD/CME requirements. Find out more

Exam Preparation

The leading provider of online exam preparation, helping over 167,000 healthcare professionals to pass their exams. Find out more

onExamination

Search all BMJ education articles:

From

Limit by

The BMJ iPad app brings you the best of print and online, including live links to the latest news, blogs, video, and podcasts. Get the BMJ iPad app.
You can use bmj.com to help you with your continuing medical education. Find out about CME/CPD credits for BMJ articles
Keep up to date with cardiology: Access the latest cardiovascular medicine resources from across BMJ Group.
Countdown to London 2012: BMJ Group's Olympics portal highlights latest Olympics and sports medicine-themed research, comment and learning

Access to the full text of this article requires a subscription or payment. Please log in or subscribe below.

Caroline F Wright, head of science1,
Lyn S Chitty, reader and consultant in genetics and fetal medicine 23

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

Correspondence to: C F Wright caroline.wright{at}phgfoundation.org

Accepted 27 April 2009

Summary points

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 care.1 Improvements in molecular genetic technology over the same period have enabled the translation of cell-free fetal DNA testing into clinical practice for early non-invasive prenatal identification of some genetic traits. However, complex wider ethical, legal, and social problems associated with the technology, as well as implications for clinical and laboratory services, still need careful consideration. This article gives an overview of recent developments in cell-free fetal nucleic acid technology and its implications for non-invasive prenatal diagnosis and screening.

Sources and selection criteria

We searched PubMed, the Cochrane Collaboration, and Science Direct using the terms “non-invasive prenatal diagnosis” and “free fetal DNA” (and common variations), in addition to using personal archives of references. We also led a working group of experts and key stakeholders in the United Kingdom to review the area and make recommendations for implementation of this technology in the NHS.