How to cite this article: Archibald AD, Jaques AM, Wake S, Collins VR, Cohen J, Metcalfe SA. 2009. “It's Something I Need to Consider”: Decisions about carrier screening for fragile X syndrome in a population of non-pregnant women. Am J Med Genet Part A 149A:2731–2738.
“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non-pregnant women†
Article first published online: 24 NOV 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 12, pages 2731–2738, December 2009
How to Cite
Archibald, A. D., Jaques, A. M., Wake, S., Collins, V. R., Cohen, J. and Metcalfe, S. A. (2009), “It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non-pregnant women. Am. J. Med. Genet., 149A: 2731–2738. doi: 10.1002/ajmg.a.33122
- Issue published online: 24 NOV 2009
- Article first published online: 24 NOV 2009
- Manuscript Accepted: 17 AUG 2009
- Manuscript Received: 19 MAR 2009
- Fragile X Alliance, Inc.
- Murdoch Childrens Research Institute
- The University of Melbourne
- carrier screening;
- fragile X syndrome;
- health belief model;
- health behavior;
- qualitative research
Population carrier screening for fragile X syndrome can provide women with information about their risk of having a child with fragile X syndrome and their risk of fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome. Few studies have explored women's decisions when offered carrier screening for fragile X syndrome. Interviews were conducted with 31 women who participated in a pilot study offering carrier screening to non-pregnant women. A qualitative approach was used to gain an in-depth understanding of women's experiences and examine their decision-making processes, including women who were tested and those who decided not to be tested. The decision-making process occurred in two phases. In the first phase, the participant's reproductive stage of life and experience with illness and disability were major factors influencing whether she would consider screening. In the second phase of decision-making, participants' perceptions of the value of knowing their carrier status was the most notable factor for influencing whether a woman actually had the carrier test. Some women appreciated having time for deliberation and those who were tested did not express regret about their decision. Our findings support offering carrier screening for fragile X syndrome to non-pregnant women and suggest that women from the general population will have specific informational and counseling needs when offered carrier testing. This study highlights the unique challenges encountered by women from the general population when making a decision about testing for fragile X syndrome carrier status and illustrates the importance of understanding how women make decisions. © 2009 Wiley-Liss, Inc.