Unexpected findings from Down's syndrome screening. V.1
Research type
Research Study
Full title
A qualitative study exploring patient’s experience of receiving an unexpected result following Down’s syndrome screening.
IRAS ID
166062
Contact name
Marion McAllister
Contact email
Sponsor organisation
Cardiff University
Duration of Study in the UK
0 years, 9 months, 31 days
Research summary
What are patients’ experiences of receiving an unexpected finding following prenatal karyotyping and what recommendation can we draw from this to inform the implementation of chromosome microarray's into prenatal practice?
Patient's who have undergone karyotyping (chromosomal analysis), after being given a high risk of Down's syndrome, and received an unexpected finding (a result other than Down's syndrome) will be interviewed about their experiences and their recommendations for the handling of this type of result. The number of unexpected findings in prenatal screening are likely to increase with the implementation of chromosomal microarrays (CMAs) (a newer technology than karyotyping with a higher sensitivity). Currently there is a lack of guidelines addressing the handling of unexpected findings in the prenatal field. It is important that patient preferences are identified and considered in the development of guidelines. This study is being undertaken as part of the MSc in genetic counselling run by Cardiff University.
REC name
Wales REC 6
REC reference
15/WA/0138
Date of REC Opinion
10 Jun 2015
REC opinion
Further Information Favourable Opinion