Aim
To improve the quality of NHS prenatal diagnostic services by evaluating early non-invasive prenatal diagnosis (NIPD) based on cell free fetal (cff) DNA and RNA in maternal plasma.

Background
Prenatal screening and diagnosis are a routine part of antenatal care. Currently, prenatal diagnosis of genetic and chromosomal conditions involves invasive testing, such as amniocentesis or CVS, performed from 11 weeks gestation and carrying an ~1% risk of miscarriage. Annually about 25,000 of the 700,000 pregnant women in the UK undergo invasive testing. The identification of cffDNA and cffRNA in maternal blood offers an alternative earlier, and potentially safer source of fetal genetic material for prenatal diagnosis. However, methods based on cffDNA and cffRNA represent a step change in our ability to undertake prenatal genetic testing, using different laboratory procedures and needing investment in new equipment, development of new laboratory skills, standards, quality assurance and clinical management programmes. The nature and timing of pre-test counselling may also have to change. The ethical and social implications of the potentially easier access to non-invasive testing may also be significant. As NHS laboratories are already experimenting with NIPD there is an urgent need for a formal evaluation to develop quality procedures and appropriate, safe health care delivery systems accounting for patient preference and yet minimising risks to families from improperly implemented new technologies which might otherwise simply ‘seep’ into practice.

Previous work done on NIPD by the RAPID team
Several members of the RAPID team were partners in the SAFE EU Framework 6 network of excellence (ended 28.2.09) which aimed to facilitate development of NIPD in Europe. RAPID will build on the work done in SAFE, and continue to collaborate with European partners to facilitate widespread implementation of NIPD when it is safe and appropriate to do so. The large bank of samples collected by SAFE will be used in the early stages of the laboratory arm of the RAPID project. We will also build on the preliminary work done by the SAFE ethics work package and Genetic Alliance UK describing the impact on pre-test counselling and the lay public needs (see over for selected publications).

Methods

• Development of laboratory standards for NIPD of fetal sex determination and single gene disorders
• A comprehensive and large scale evaluation of methods reported for the NIPD of Down’s syndrome.
• A detailed economic evaluation of the cost effectiveness of NIPD
• Studies to determine couples choices, preferences and needs should NIPD be introduced, and the impact this may have on health professional’s attitudes and pre-test counselling.
• Development of educational material for families, health professionals and the general public.
• A detailed assessment of the wider social and ethical issues.
• Analysis of health service needs and the development of resources for commissioners and providers to support appropriate implementation of the technology.

Outcome
Development of a cogent set of recommendations for use by those implementing NIPD in NHS practice which embraces the needs and opinions of all stakeholders involved in service provision –professionals, commissioners, pregnant women, their partners and the wider community.