The latest developments of the RAPID project
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 […]
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: […]
The June issue of Prenatal Diagnosis has provided us with an update on non-invasive prenatal testing using maternal plasma DNA. The aim of this special issue was to capture the main advances in the field and highlight the areas for future development. Professors Lyn Chitty and Diana Bianchi have edited this issue, drawing together the […]
Three new publications from the RAPID team highlight the diversity of work we have been doing on NIPD for single gene disorders: Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn 2013 33:416-423 http://www.ncbi.nlm.nih.gov/pubmed/23408600 Lench N, Barrett […]
A new paper from Srinivasan et al in the USA has shown that molecular karyotyping of the fetus is possible using cffDNA. The research team was able to detect small changes to the fetal chromosomes using deep massively parallel sequencing of cffDNA isolated from maternal blood samples. This proof-of-principle study looked at the maternal plasma from 11 women known to […]
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