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

BMC Pregnancy Childbirth. 2014 Jul 16;14:229. doi: 10.1186/1471-2393-14-229.


Background: 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.

Methods/design: 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.

Discussion: 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: 13865.

Publication types

  • Multicenter Study
  • Observational Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Chromosome Disorders / blood
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 13 / genetics
  • Chromosomes, Human, Pair 18 / genetics
  • DNA / analysis
  • DNA / blood
  • Down Syndrome / blood
  • Down Syndrome / diagnosis*
  • Down Syndrome / genetics
  • England
  • Fees and Charges
  • Female
  • Genetic Testing / methods*
  • Humans
  • Patient Acceptance of Health Care
  • Patient Education as Topic
  • Pregnancy
  • Prenatal Diagnosis / economics
  • Prenatal Diagnosis / methods*
  • Research Design*
  • Scotland
  • State Medicine
  • Trisomy / diagnosis*
  • Trisomy / genetics
  • Trisomy 13 Syndrome
  • Trisomy 18 Syndrome


  • Biomarkers
  • DNA