Developing a Genetic Test for Suspected Miscarriage V 1.1. 160719
Research type
Research Study
Full title
A Pilot Study to Develop a Screening Test for Genetic Abnormalities in Suspected Miscarriage
IRAS ID
254723
Contact name
Sian Morgan
Contact email
Sponsor organisation
Cardiff and Vale University Health Board
Duration of Study in the UK
0 years, 4 months, 20 days
Research summary
The All Wales Genetics Laboratory is now delivering a non-invasive prenatal testing (NIPT) service as part of the routine screening programme for pregnant women and is an UK leader in this field. NIPT works by detecting DNA fragments from the placenta that are circulating in the maternal blood. Currently the in-house test targets specific chromosomes (13, 18, 21), however, the test can be extended to analyse the entire genome.
The single most common cause of early pregnancy loss is the presence of a chromosome abnormality, which is responsible for more than 50% of losses in the first trimester. Current guidelines state that for couples who have had a third miscarriage, it is recommended that the fetus is tested for chromosomal abnormalities. The current genetic testing pathway involves collecting and receiving the products of conception in the laboratory. Collecting such material is distressing and problematic since in most cases patients will be at home at this time. Additionally, there is a high risk of an erroneous result as the sample may be maternal and not fetal in origin. NIPT, a maternal blood test, will have huge clinical benefits for this patient group as it will simplify the current patient care pathway and women will obtain an accurate genetic result.
The aim in the future is to investigate the utility of the NIPT service for couples who have undergone recurrent miscarriages to replace current genetic testing pathways. This pilot study will concentrate on the development/extension of the existing NIPT laboratory protocol to enable such future studies. The aim is to set up the test and a bioinformatic analysis pipeline using ‘donated’ blood samples collected from women during prenatal care. Setting up an ‘in-house’ test solution will allow us have complete control of ‘our’ test and the results we generate in future service provision.
REC name
Wales REC 1
REC reference
19/WA/0186
Date of REC Opinion
19 Jul 2019
REC opinion
Further Information Favourable Opinion