Study investigates new prenatal screening test for Down’s Syndrome in the NHS

21 Oct 2013, 10:58 a.m.

Ultrasound test

The possibility of offering an improved prenatal test for Down’s Syndrome will be evaluated in a major new study run by Great Ormond Street Hospital for Children (GOSH).

The study, funded by the National Institute for Health Research (NIHR) and developed in close collaboration with the UK National Screening Committee (UK NSC), will explore whether non-invasive prenatal testing (NIPT) should be offered to pregnant women in the NHS. The new blood test could improve the early detection of Down’s Syndrome with fewer women needing invasive tests, which can lead to miscarriage.

NIPT detects DNA from a baby in a sample of blood taken from the mother and this new test is reported to be approximately 99% accurate.

The study, which launches in November 2013, will involve the recruitment of women from several maternity units in London and the South East. It will investigate how NIPT compares with the NHS’s current Down’s syndrome screening programme in terms of how many women want it, how easily the NHS can provide it and how the associated information and education would be provided to women and healthcare professionals.

Lyn Chitty, Professor of Genetics and Fetal Medicine at GOSH and lead investigator, says:

“This study will look at whether NIPT can improve the safety and accuracy of screening for Down’s syndrome. At present, pregnant women who are shown to be at a higher risk of having a baby with Down’s syndrome are offered invasive follow-up tests which carry a risk of miscarriage. It is hoped that the introduction of NIPT will reduce the number of these invasive tests, while detecting more cases of Down’s syndrome than we currently do.

“We will also evaluate the views, opinions and experiences of women and health professionals.

“One of the very important aspects of our study is looking at ways to ensure women understand the test and the implications of the results so that they can choose whether or not to have it.”