“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non‐pregnant women
- 24 November 2009
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 149A (12), 2731-2738
- https://doi.org/10.1002/ajmg.a.33122
Abstract
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.Keywords
This publication has 28 references indexed in Scilit:
- The Influence of Experiential Knowledge on Prenatal Screening and Testing DecisionsGenetic Testing, 2008
- Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 testsPrenatal Diagnosis, 2007
- Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: A theory-guided systematic reviewGenetics in Medicine, 2007
- Health beliefs among African American women regarding genetic testing and counseling for sickle cell diseaseGenetics in Medicine, 2007
- Attitudes Toward Fragile X Mutation Carrier Testing from Women Identified in a General Population SurveyJournal of Genetic Counseling, 2007
- Attitudes toward prenatal screening and testing for Fragile XGenetics in Medicine, 2006
- Women's Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative AnalysisJournal of Genetic Counseling, 2005
- Fragile X syndrome carrier screening in the prenatal genetic counseling settingGenetics in Medicine, 2005
- Women’s decision-making about their health care: views over the life cyclePatient Education and Counseling, 2002
- Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary dataAmerican Journal of Medical Genetics, 1999