NIPT - Down's syndrome, Edwards syndrome and Patau's syndrome

In 2016 the UK National Screening Committee (UKNSC) recommended that a non-invasive cell-free DNA test (NIPT) for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome should be offered as a new additional test on the antenatal screening pathway, with ongoing evaluation.

The National Disease Registration Service (NDRS), supported this evaluative rollout of NIPT by collecting, curating and linking first-line trisomy screening test data (NHS combined or quadruple tests), NIPT test data and registration data, describing the eventual diagnostic and pregnancy outcomes where a trisomy was identified.

This project was co-led between the NHS Fetal Anomaly Screening Programme (FASP), who led on the evaluation, and NDRS, who provided the majority of the data.

This project brings together high-quality laboratory, diagnostic and congenital condition registration data. It shows whether access to testing is fair and what happens after NIPT. It helps pregnant people and their families make informed choices following a NIPT test.

Collecting the data for the NIPT evaluation involved setting up entirely new dataflows into the NDRS data infrastructure and providing analysis at pace.

The evaluation added to the evidence base on the accuracy of NIPT as a screening test as well as providing data and information on the operational performance of NIPT, including test turnaround times, false negatives, false positives, and test failure rates.

The evaluation data forms part of the evidence base to be used by the UKNSC for making decisions about the national rollout of NIPT, and to be used by FASP to improve the operational pathway of NIPT.
We have been able to use the data to inform decisions on changes to the NIPT testing pathway, changes to the laboratory testing platforms and updates to training for maternity services to improve the informed choice for screening.