Delivering safer antenatal testing

Case study

The work

PHG Foundation recognised the potential of NIPT to improve antenatal care but also saw the many ethical issues it raised. Back in 2007 - in response to a call from the UK's Joint Committee on Medical Genetics (now the Joint Committee on Genomics in Medicine) for a national UK strategy for implementation of NIPT (also known as non-invasive prenatal diagnosis (NIPD))- we undertook a multidisciplinary appraisal of the technology, which would embrace the ethical, legal and social dimensions as well as the technical and clinical ones.


At the time of our foundational work in the field, NIPT was being considered for use to determine fetal sex (useful for pregnancies at risk of sex-related disorders) and was under development for conditions such as Down's syndrome. Traditionally, testing for foetal abnormalities has been an invasive procedure involving the extraction of foetal DNA and carrying a small but significant risk of miscarriage. NIPT allows genetic testing of a foetus from a less invasive maternal blood sample early in pregnancy, presenting a much safer option for testing.

 What we did 

  • Undertook the first ever comprehensive review of the technology and its current and future applications in the UK
  • Brought together experts from a wide range of relevant fields to debate openly the implications of the new technique and to consider the wider societal impact
  • Working to build professional consensus, we created timely policy guidance to accelerate preparation for implementation of NIPT in the UK health system

Our work laid the foundations for the Government funded Reliable Accurate Prenatal non-Invasive Diagnosis programme, in which we have been a collaborator. The final report from the study resulted in the January 2016 recommendation of UK National Screening Committee to introduce NIPT for Down’s, Edward’s and Patau’s syndromes as part of an evaluation process.

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