Journal article

"It's Something I Need to Consider": Decisions About Carrier Screening for Fragile X Syndrome in a Population of Non-Pregnant Women

Alison D Archibald, Alice M Jaques, Samantha Wake, Veronica R Collins, Jonathan Cohen, Sylvia A Metcalfe



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 dec..

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Funding Acknowledgements

Grant sponsor: Fragile X Alliance, Inc.; Grant sponsor: Murdoch Childrens Research Institute; Grant sponsor: The University of Melbourne.This work was supported by the Fragile X Alliance, Inc., Murdoch Childrens Research Institute, and the University of Melbourne. Alison Archibald is supported by an Australian Postgraduate Award Scholarship. We thank the participants in this study for taking the time to share their experiences with us. We thank Lynn Jordan, Dr. Hennie Williams, and Dr. Kathleen McNamee for their support in allowing us to conduct the study at Family Planning Victoria; Vicky Reddick, Family Planning Victoria and Erica Brown, Genetic Health Services Victoria for their assistance in recruiting participants. We would like to thank A/Prof. Allyn McConkie-Rosell and Dr. Jan Hodgson for their valuable comments on this manuscript.