Expert recommendations on non-invasive prenatal diagnosis

12 February 2009

The use of fetal nucleic acids (primarily DNA at present, but also RNA) from a sample of maternal blood taken early in pregnancy is an exciting new technique with potential to improve various forms of antenatal testing by allowing earlier diagnosis without the risk associated with current invasive techniques. A new report from the PHG Foundation in Cambridge, Cell-free fetal nucleic acids for non-invasive prenatal diagnosis, sets out the findings of a UK Working Group of technical experts, National Health Service (NHS) providers and wider stakeholders for the Joint Committee on Medical Genetics (JCMG) of the Royal College of Physicians.

Funded and led by the PHG Foundation, this group was convened to assess the prospects for this technique in the UK and implications for the NHS. Bodies represented include the Royal College of Obstetricians and Gynaecologists, the Royal College of Midwives, the British Maternal & Fetal Medicine Society, the UK National Screening Committee, the Human Genetics Commission and the Genetic Interest Group and Antenatal Results and Choices charities, as well as expert scientists and clinicians, NHS managers and policy makers, and experts in law and ethics. Conclusions and recommendations include:

  • Reliable non-invasive prenatal diagnosis using fetal DNA is already possible for some applications and likely to become available for others within the next 3-5 years.
  • The NHS should take steps now to ensure that it is able to respond in a timely and appropriate manner as the technology develops. This includes formal evaluation for different purposes, development of specified care pathways and national best practice guidelines, and oversight from the appropriate authorities.
  • Both public engagement efforts and health professional education about the potential and limitations of the technique are urgently needed.
  • The technique should only be used according to standardized protocols within agreed clinical pathways, with formal audit and monitoring processes, and quality assurance frameworks. This will ensure appropriate use and accurate, reliable results.
  • Non-invasive prenatal diagnosis is already available privately on a direct-to-consumer basis, and may have an increasing impact on NHS primary care and antenatal services. A voluntary code of conduct should be supported to help ensure the quality of private services.
  • Ethical and social issues associated with some of the broader implications of non-invasive prenatal diagnosis using fetal DNA warrant further consideration and research.

JCMG chair Professor Trevor Cole commented: "The PHG Foundation has led a large multidisciplinary expert group to produce this timely appraisal of non-invasive prenatal diagnosis. The report provides an authoritative account of the technologies and their current and possible future uses in clinical care and sets out clearly the many issues that will need to be addressed. Organisations and individuals with an interest in this area should use it as a valuable source of information about the technology and its wider implications, and as a starting point for further work” (see press release), adding that the “excitement and opportunities of technology…need to be balanced against the necessity of properly validated techniques, effective and patient centred clinical services and responsible actions of society".

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