Evaluation study

Non-invasive prenatal testing for Down syndrome

NIPT for Down syndrome evaluation study

Non-invasive prenatal testing (NIPT) for Down syndrome is currently available in the commercial sector in the UK. Further evaluation is required by the UK National Screening Committee (UK NSC) before it considers whether to adopt NIPT in the NHS.

The NIPT for Down syndrome evaluation study is funded by the NIHR and led by the RAPID team at Great Ormond Street Hospital. In this study all women undergoing Down syndrome Screening (DSS) at the eight participating units and who have a risk of >1:1,000 will be offered NIPT (see the flow chart, below).

Invasive diagnostic testing will then be offered to those whose NIPT result predicts the baby is affected, as NIPT is not considered diagnostic as yet.

Data from this study will be used to assess the accuracy of NIPT in this lower risk population, as the majority of previous studies have looked at high-risk women only. The study will assess the following:

  • Uptake of NIPT and whether the addition of NIPT to the DSS pathway affects the uptake of DSS and invasive testing.
  • The barriers and facilitators to implementing NIPT in the NHS.
  • A detailed health economic evaluation using a tool developed in conjunction with the UK NSC.
  • Optimal ways to deliver education to women and healthcare professionals.
  • Sensitivity and specificity of NIPT for aneuploidy when performed in an NHS regional genetics laboratory.

The study will recruit over the period of a year, with regular interim reports to the UK NSC in order to facilitate appropriate and timely implementation into the maternity care pathway.

An information sheet for participants in the study is available here.

Recruitment for the study is now complete.

For further information on NIPT please see the GOSH – Genetics website