Speaker BIO:
Lyn Chitty is in the unique position of being the only UK Professor of Genetics and Fetal Medicine, and was appointed to this chair at the UCL Institute of Child Health in 2009. She is also Consultant in Fetal Medicine at UCLH NHS Foundation Trust. She has published extensively on prenatal diagnosis and ultrasound screening of fetal abnormalities, specifically skeletal abnormalities, and was responsible for creating the fetal size standards now in use throughout the UK and beyond. Her main current research interest is in NIPD and she leads a 5‐year NIHR programme grant (‘Rapid Accurate Prenatal non‐Invasive Diagnosis (RAPID) – an integrated project to refine and implement safer antenatal testing’) which is designed to develop standards for routine implementation of this exciting new technology. A member of the National Screening Committee on Routine Fetal Anomaly Scanning for some years, she is also an editor of the journal Prenatal Diagnosis, and on the Board of Directors of the ISPD. She has recently been appointed Clinical Director of the NIHR Clinical Research Network: North Thames.
Overview
Newly developed non-invasive prenatal diagnosis (NIPD) tests based on analysis of cell free fetal DNA are allowing couples at risk of some single gene disorders to have prenatal diagnosis using a maternal blood test from nine weeks in pregnancy.
In the United Kingdom (UK), NIPD for autosomal dominant conditions such as achondroplasia, thanatophoric dysplasia, and Apert syndrome are now in routine clinical service, as is NIPD for paternal exclusion of cystic fibrosis. NIPD for recessively inherited single gene disorders is more complex as high background level of maternal mutant alleles must be taken into account. Currently the majority of these tests are done using next generation sequencing which is now lending itself to NIPD for recessive disorders such as congenital adrenal hyperplasia. The process by which we have developed these tests and gained approval for use in the UK National Health Service will be described, data relating to patients experience of NIPD will be presented and issues relating to implementation of a prenatal diagnostic service based on NIPD will be discussed.
