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

Abstract

BackgroundNon-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.Methods/DesignNIPT 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.DiscussionThe 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 Number13865

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

“…22 With NIPT now available through commercial companies in more than 60 countries 8 and evaluation of implementation in the public sector underway, [23][24][25] this exploration of cross-cultural variation in women's and HPs' preferences for prenatal tests is timely. Overall, women placed greater emphasis on test safety and having comprehensive information than HPs, who placed more emphasis on accuracy and early testing than women.…”

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes

“…The aim of a prenatal screening programme for Down syndrome is to provide pregnant women with an autonomous reproductive choice about continuing or terminating the pregnancy on the basis of the prenatal diagnosis of fetal Down syndrome. At present, several countries are organizing the implementation of NIPT in their Down syndrome screening programme [14,15,16]. There are a number of ways to implement NIPT into a Down syndrome screening programme.…”

Localizing NIPT: Practices and meanings of non-invasive prenatal testing in China, Italy, Brazil and the UK

“…In this study all women undergoing DSS at the eight participating units and who have a risk of >1:1,000 were offered NIPT. RAPID has already provided two positive evaluation reports on NIPT [29,30]. On January 18 th , 2016, the UK National Screening Committee reported evidence based on the RAPID project that NIPT is highly accurate for detection of foetal chromosomal aneuploidies including the detection of trisomy 21, trisomy 18, and trisomy 13, and recommended it for implementation through the NHS to all women.…”