Non-invasive prenatal testing for Down's syndrome in the UK

1 November 2013

A major new study is to assess the feasibility of offering non-invasive prenatal testing (NIPT) for Down’s syndrome as part of antenatal care in the UK National Health Service.
The National Institute for Health Research (NIHR) funded study will be conducted at Great Ormond Street Hospital for Children (GOSH), which has developed the project in collaboration with the UK National Screening Committee (NSC), which oversees the NHS Fetal Anomaly Screening Programme for pregnant women.
It will explore whether NIPT can improve the safety and accuracy of screening for Down’s syndrome. Women at high risk based on current screening tests are offered invasive testing to diagnose (or definitely exclude) the presence of Down’s syndrome in the fetus. Unfortunately a small proportion of women who undergo invasive testing will miscarry as a result.
Non-invasive testing as a form of screening is more accurate than current methods and would reduce the number of women identified as high risk for whom invasive diagnostic testing is offered. NIPT is approximately 99% accurate from early in pregnancy onwards; GOSH lead investigator Professor Lyn Chitty commented: “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”.
The study will recruit of women from maternity units in London and the South East; as well as checking the accuracy of NIPT it will also examine how its use would compare with current Down’s syndrome screening methods, in terms of women’s preferences and information requirements, health professional educational needs, and other issues relating to introduction into the NHS.
Comment: The PHG Foundation has a long standing interest in NIPT, originating from our pivotal work to look at the impact it would have on the NHS (Cell-free fetal nucleic acids for non-invasive prenatal diagnosis, 2009). As well as being involved with the studies leading up to this latest UK trial, PHG is a collaborator in this study and will be working on issues related to implementation, such as meeting the needs of health commissioners. For more information, see the RAPID study website. 

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