RAPID Meeting 15th January 2014

New Approaches to the Prenatal Diagnosis of

Genetic Disease

Organisers: Lyn Chitty and John Crolla 


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


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