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Research leads to safer Down’s Syndrome testing for expectant mothers

6 December 2016 | Professor Lyn Chitty

Lyn Chitty is Clinical Director of the NIHR Clinical Research Network: North Thames and Professor of Genetics and Fetal Medicine at the UCL Great Ormond Street Institute of Child Health. This October, Lyn’s most recent research made headline news with the announcement that the NHS will be introducing non-invasive prenatal testing for Down’s Syndrome.

Here, Lyn explains how she, and her team of researchers, approached an analysis of the costs and benefits of offering non-invasive prenatal testing (NIPT) for Down’s Syndrome in the NHS and helped change future options for expectant mothers. 

“For years amniocentesis has been the only option for women at high risk of having a baby with Down’s Syndrome. The test carries with it a small risk of miscarriage and as such many women choose not to have it.

In 2013 it became apparent that it was timely to evaluate the use of NIPT for Down’s Syndrome in the NHS. This non-invasive blood test is more accurate than current screening tests, and so reduces the number of women that need an invasive test to confirm a high risk result.

With funding from the National Institute for Health Research and Great Ormond Street Hospital for Children NHS Foundation Trust, my team and I were able to initiate this evaluation. We worked closely with laboratory scientists, health economists and social scientists to better understand the impact offering this test would have.

Our work analysed women’s views, test uptake and outcomes to better understand the costs and benefits of offering expectant mothers NIPT as part of the Down’s Syndrome screening programme in the NHS. We were supported all the way by Local Clinical Research Network staff across the country who helped recruit women to the trial in eight NHS maternity units.

We found that the non-invasive test uptake was high and, due to its sensitivity, we were able to increase the detection of Down’s Syndrome. By offering the non-invasive procedure we saw in a decrease in the number of invasive tests that were carried out. Importantly, our evaluation showed that offering NIPT in the NHS was cost neutral.

We published a write up of our work in the BMJ in July. This work was considered by the UK National Screening Committee who recommended that the government implemented the test. This recommendation that has recently received ministerial endorsement.

There are groups in the UK who are vocal about their objection to the test but, for me, this is about giving pregnant women a safe choice and providing parents with as much information as possible so that they can make informed decisions about their pregnancy.”

The NHS expects to begin rolling out the non-invasive test for Down’s Syndrome from 2018. Until then, work will be underway to ensure healthcare professionals receive high quality training so they can deliver the test and ensure that parents understand the choices they are making. 

Read more in the BMJ paper published by the team