Study to evaluate new prenatal test for Down syndrome in the NHS

A major new study run by the RAPID team Great Ormond Street Hospital for Children (GOSH) will evaluate the possibility of offering an improved prenatal test for Down syndrome. 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 aspects of how non-invasive prenatal testing (NIPT) might be offered to pregnant women in the NHS. The new blood test could improve the early detection of Down 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 launched on 1 November 2013, will involve the recruitment of women from several maternity units in London and South East England. It will investigate how NIPT compares with the NHS’s current Down 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. The launch of the study created considerable media interest, some of which can be accessed via the links below.

RAPID Meeting 15th January 2014

New Approaches to the Prenatal Diagnosis of Genetic Disease Organisers: Lyn Chitty and John Crolla  Agenda Kennedy Lecture Theatre, Institute of Child Health, 30 Guilford Street, WC1N 1 EH  Wednesday 15th January 2014 09:00                          Registration and coffee 09.40                          Welcome and overview – Lyn Chitty 09.45  – 11.45:          Session 1 – MICROARRAYS Chair: John Crolla 10.00  Evaluating prenatal arrays in the UK – EACH update John Crolla, Salisbury 10.30  Counselling challenges in prenatal aCGH: The place of a review panel Diana Wellesley, Southampton 11.00  Prenatal microarrays in clinical practice – lessons learnt Brigitte Faas, Netherlands 11.30  What’s next? The PAGE study Discussion 11.45 – 12.15:          Session 2 – IMPLEMENTING NIPD FOR RHD IN THE NHS Speaker TBC 12.15 – 13.15:          Lunch (Winter Garden) 13.15 – 15.00:          Session 3 – NON-INVASIVE PRENATAL DIAGNOSIS (NIPD) Chair: Nick Lench PCR-RED, digital PCR or NGS – implementing NIPD for monogenic disorders in the public sector Fiona McKay, GOSH Brief (5min) presentations from Cambridge (TS) and Birmingham (BMD/DMD) (TBC) Stakeholder perspectives of NIPT for single gene disorders Celine Lewis, RAPID NIPD and direct to consumer testing – should we be concerned? Heather Skirton, Plymouth 15.00 – 15.20:          Afternoon Tea 15:20 – 17.30:          Session 4 – NIPT FOR ANEUPLOIDY Chair: Lyn Chitty 15.20  NIPT for aneuploidy – overview Brigitte Faas, Netherlands 15.45  Challenges in developing NIPT for aneuploidy – sample prep, data interpretation Sarah Fielding and Chris Boustred, RAPID   16:05  Stakeholder perspectives of NIPT for Down’s syndrome Mel Hill, RAPID                        16:25 Economics of implementing NIPT for Down’s syndrome Steve Morris, Department of Applied Health Research, UCL 16.45 RAPID...