Non-invasive prenatal testing for sickle cell disease (SCIP study) v1
Research type
Research Study
Full title
Non invasive prenatal diagnosis of sickle cell disease and other genetic disorders by next generation sequencing of cell free fetal DNA in maternal serum
IRAS ID
183746
Contact name
Eugene Oteng-Ntim
Contact email
Sponsor organisation
Guy's and St Thomas' Foundation NHS Trust
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Prenatal diagnosis for couples whose pregnancies are at increased risk of a genetic disease is essential for informing pregnancy management. Current methods require sampling of placental material (chorionic villi) or fluid from within the sac surrounding the fetus (amniotic fluid), procedures which are associated with a risk of miscarriage. An alternative, safer approach to prenatal diagnosis is the analysis of cell-free placental DNA (cfDNA) which is shed into the maternal blood stream and, as it represents the fetus, has been shown to be useful for the assessment of fetal chromosomes and genes. As cfDNA is obtained from a maternal peripheral blood sample, an invasive prenatal test may be avoided. CfDNA testing is now proven to be a more effective screen for trisomy 21 (Down syndrome) than current screening approaches and has been approved for evaluation and implementation within the NHS from April 2017. CfDNA testing for prenatal diagnosis of single gene disorders such as sickle cell disease is a more challenging area and testing strategies continue to be explored. To date, tests are available for fewer than ten genetic conditions in the UK and worldwide. We currently provide a regional prenatal service for the diagnosis of chromosome and genetic abnormalities tests by analysing chorionic villi and amniotic fluid. However, we plan to develop and evaluate cfDNA testing to replace these invasive tests with a particular focus on sickle cell disease in the first instance. Our stored DNA samples are not suitable for cfDNA test development. Blood samples from women (and their partners) with pregnancies at risk sickle cell disease and other genetic disorders will be required; DNA prepared from these will be a resource for the development of non-invasive prenatal testing for a number of disease areas.
REC name
London - Camberwell St Giles Research Ethics Committee
REC reference
16/LO/1865
Date of REC Opinion
14 Oct 2016
REC opinion
Favourable Opinion