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 NIPT for aneuploidy evaluation in the NHS Study update
Lyn Chitty, RAPID PI, Institute of Child Health and UCLH
17.15 Where next and discussion
17:30 Close
Registration for this meeting is essential. There is no charge for the meeting but we will need to ask for £10.00 towards refreshments.
To register please email j.preece@ucl.ac.uk