Conflict of interest: none.
Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom
Article first published online: 21 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1612–1618, July 2013
How to Cite
2013. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom. Am J Med Genet Part A 161A:1612–1618., , , , .
Melissa Hill and Madhavi Karunaratna contributed equally to this work.
- Issue published online: 19 JUN 2013
- Article first published online: 21 MAY 2013
- Manuscript Accepted: 4 MAR 2013
- Manuscript Received: 17 DEC 2012
- National Institute for Health Research (NIHR) (RP-PG-0707-10107)
- Central and East London NIHR Comprehensive Local Research Network
- Great Ormond Street Hospital Children's Charity
- The NIHR Biomedical Research Centre at Great Ormond Street Hospital
- Non-invasive prenatal diagnosis;
- cell-free fetal DNA;
- single gene disorders
Non-invasive prenatal diagnosis (NIPD) will offer new options in prenatal diagnosis for carriers of single gene disorders. This will affect carrier couples and health professionals involved in prenatal care. The aim of this study was to determine health professional opinions on NIPD for single gene disorders to guide development of infrastructure required for implementation. A qualitative approach was adopted using focus groups (N = 17) and one-to-one interviews (N = 30) with health professionals from a range of backgrounds involved in caring for carriers of single gene disorders. Data were digitally recorded, transcribed verbatim and analyzed using thematic analysis. Participants were very positive about the introduction of NIPD, describing benefits arising from no risk of miscarriage, earlier testing and a simple procedure. A number of concerns for implementation were raised. Participants emphasized the need for the new test to be highly accurate and thoroughly validated. There was concern that people may not give as much thought to having a blood test compared to an invasive test or that it may be viewed as routine and as such NIPD may negatively impact on informed consent. In addition there was concern that the simplicity of a blood test may lead to increased pressure to test and terminate. However, participants felt these concerns could be overcome with thorough pre- and post-test counseling. To ensure high quality care, offering NIPD through genetics or other specialist services is essential. Ongoing education and training of health professionals will be important, and guidelines and regulation are needed for effective implementation. © 2013 Wiley Periodicals, Inc.