News

The latest developments of the RAPID project

RAPID news

RAPID NIPT Evaluation Study influences decision to implement NIPT in UK

The UK National Screening Committee (NSC) has announced their recommendation to introduce NIPT as part of an evaluation process that will assess the impact of NIPT on the NHS Fetal Anomaly Screening Programme. NIPT will be offered as an additional screening test for women who have a high risk screening result for Down’s, Edward’s or […]

RAPID Dissemination Meeting planned for 15 September 2015

A RAPID Dissemination Meeting is planned for Tuesday 15th September 2015 at the UCL Institute of Child Health in London. Click here to download the programme and please contact us at rapid@ucl.ac.uk to be sent a registration pack.

New RAPID Publications

Chitty LS, Mason S, Barrett AN, McKay F, Lench N, Daley R, Jenkins LA. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. 2015 Feb 26. [Epub ahead of print] Hill M, Twiss P, Verhoef T, Drury S, McKay F, Mason S, […]

New RAPID Publications

Several new RAPID papers have been published including a qualitative study exploring ethical issues for NIPD for autosomal recessive conditions and an analysis of how the UK media reports NIPD/NIPT. Skirton H, Goldsmith L, Chitty LS. An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders. EJHG. 2014. […]

New RAPID Publications

Several new RAPID papers have been published recently, including research studies looking at the cost of NIPT in the NHS and the impact of introducing NIPT on informed choice. Morris S, Karlsen S, Chung N, Hill M, Chitty LS. Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down’s Syndrome using cell free […]

Testing updates

NIPD for single gene disorders

NIPD for achondroplasia, thanatophoric dysplasia and Apert syndrome (ie FGFR 2 and 3 alterations) are currently available through the NHS. These tests are proving to be highly accurate and it is not recommended that invasive tests are needed to confirm the NIPD result. For details about these available tests, see our factsheets on skeletal dysplasias and Apert syndrome. NIPD for cystic fibrosis to exclude paternal inheritance […]

Laboratories offering non-invasive fetal sex determination

London North East Thames Regional Molecular Genetics Service (Great Ormond Street Hospital, London) NE Thames Regional Molecular Genetics Laboratory, Great Ormond Street Hospital NHS Trust Level 6 York House 37 Queen Square London WC1N 3BH United Kingdom Telephone: 0207-762-6888 FAX: 0207-813-8196 Email: lucy.jenkins@gosh.nhs.uk North West Regional Molecular Genetics Service (Manchester) Regional Genetic Service St Marys Hospital […]