Open Access Highly Accessed Study protocol

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

Melissa Hill12, David Wright3, Rebecca Daley14, Celine Lewis12, Fiona McKay1, Sarah Mason1, Nicholas Lench1, Abigail Howarth1, Christopher Boustred1, Kitty Lo5, Vincent Plagnol5, Kevin Spencer6, Jane Fisher7, Mark Kroese8, Stephen Morris9 and Lyn S Chitty124*

Author Affiliations

1 North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, York House, 37 Queen Square, London WC1N 3BH, UK

2 Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

3 Centre for Medical Statistics & Bioinformatics, Plymouth University, Plymouth, UK

4 Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK

5 UCL Genetics Institute, London, UK

6 Clinical Biochemistry Department, Barking, Havering & Redbridge University Hospitals NHS Trust, Essex, UK

7 Antenatal Results and Choices, London, UK

8 PHG Foundation, Cambridge, UK

9 Research Department of Applied Health Research, University College London, London, UK

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BMC Pregnancy and Childbirth 2014, 14:229  doi:10.1186/1471-2393-14-229

Published: 16 July 2014



Non-invasive prenatal testing (NIPT) for aneuploidies is now available through commercial companies in many countries, including through private practice in the United Kingdom (UK). Thorough evaluation of service delivery requirements are needed to facilitate NIPT being offered more widely within state funded healthcare systems such as the UK’s National Health Service (NHS). Successful implementation will require the development of laboratory standards, consideration of stakeholder views, an analysis of costs and development of patient and health professional educational materials.


NIPT will be offered in an NHS setting as a contingent screening test. Pregnant woman will be recruited through six maternity units in England and Scotland. Women eligible for Down’s syndrome screening (DSS) will be informed about the study at the time of booking. Women that choose routine DSS will be offered NIPT if they have a screening risk ≥1:1000. NIPT results for trisomy 21, 18, 13 will be reported within 7–10 working days. Data on DSS, NIPT and invasive testing uptake, pregnancy outcomes and test efficacy will be collected. Additional data will be gathered though questionnaires to a) determine acceptability to patients and health professionals, b) evaluate patient and health professional education, c) assess informed choice in women accepting or declining testing and d) gauge family expenses. Qualitative interviews will also be conducted with a sub-set of participating women and health professionals.


The results of this study will make a significant contribution to policy decisions around the implementation of NIPT for aneuploidies within the UK NHS. The laboratory standards for testing and reporting, education materials and counselling strategies developed as part of the study are likely to underpin the introduction of NIPT into NHS practice.

NIHR Portfolio Number


Non-invasive prenatal testing; Cell-free fetal DNA; Aneuploidy; Prenatal diagnosis