"It's something i need to consider": Decisions about carrier screening for fragile X syndrome in a population of non-pregnant women

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2731-2738

  Archibald, Alison D ^a,b   Jaques, Alice M ^a   Wake, Samantha ^c   Collins, Veronica R ^a   Cohen, Jonathan ^d,e   Metcalfe, Sylvia A ^a,b  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c Genetic Health Services Victoria   (Australia)

^d Fragile X Alliance Inc (Clinic and Resource Centre)   (Australia)

^e MONASH UNIVERSITY   (Australia)

Author keywords

Carrier screening; Decision making; Fragile X syndrome; Health behavior; Health belief model; Qualitative research

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FRAGILE X SYNDROME; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; MEDICAL DECISION MAKING; MEDICAL INFORMATION; PRIORITY JOURNAL; REPRODUCTION; RISK FACTOR; SCREENING TEST;

AGE DISTRIBUTION; DECISION MAKING; DEMOGRAPHY; FEMALE; FRAGILE X SYNDROME; GENETIC TESTING; GENETICS, POPULATION; HETEROZYGOTE; HUMANS; PREGNANCY;

EID: 71949120009     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33122     Document Type: Article

References (35)

1. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, Holden JJ, Yang KT, Lee C, Hudson R, Gorwill H, Nolin SL, Glicksman A, Jenkins EC, Brown WT, Howard-Peebles PN, Becchi C, Cummings E, Fallon L, Seitz S, Black SH, Vianna-Morgante AM, Costa SS, Otto PA, Mingroni-Netto RC, Murray A, Webb J, MacSwinney F, Dennis N, Jacobs PA, Syrrou M, Georgiou I, Patsalis PC, Giovannucci Uzielli ML, Guardcuui S, Lapi E, Cecconi A, Ricci U, Ricotti G, Biondi C, Scarselli B, Vieri F. 1999. Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in fragile X study-Preliminary data. Am J Med Genet 83:322-325. (Pubitemid 29162637)
2. Anido A, Carlson LM, Taft L, Sherman SL. 2005.Women's attitudes toward testing for fragile X carrier status: A qualitative analysis. J Genet Couns 14:295-306. (Pubitemid 41095423)
3. Anido A, Carlson LM, Sherman SL. 2007. Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. J Genet Couns 16:97-104. (Pubitemid 46355050)
4. Bartholomew LK, Parcel GS, Kok G, Gottlieb NH. 2006. Core processes: Using evidence, theory and new research. In: Bartholomew LK, Parcel GS, Kok G, Gottlieb NH, editors. Planning health promotion programs: An intervention mapping approach. San Francisco: Jossey-Bass. pp 32-80.
5. Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G. 2007. Preconceptional and prenatal screening for fragile X syndrome: Experience with 40,000 tests. Prenat Diagn 27:991-994. (Pubitemid 350114294)
6. Brown WT. 2002. The molecular biology of the fragile X mutation. In: Hagerman RJ, Hagerman PJ, editors. Fragile X syndrome: Diagnosis, treatment, and research. Baltimore: Johns Hopkins University Press. pp 110-135.
7. Brown JB, Carroll J, Boon H, Marmoreo J. 2002. Women's decision-making about their health care: Views over the life cycle. Patient Educ Couns 48:225-231. (Pubitemid 35449671)
8. Chen LS, Goodson P. 2007. Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: A theory-guided systematic review. Genet Med 9:442-450. (Pubitemid 47222136)
9. Cronister A, DiMaio M, Mahoney MJ, Donnenfeld AE, Hallam S. 2005. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med 7:246-250. (Pubitemid 40638070)
10. Etchegary H, Potter B, Howley H, Cappelli M, Coyle D, Graham I, Walker M, Wilson B. 2008. The influence of experiential knowledge on prenatal screening and testing decisions. Genet Test 12:115-124.
11. Fanos JH, Spangner KA, Musci TJ. 2006. Attitudes toward prenatal screening and testing for Fragile X. Genet Med 8:129-133. (Pubitemid 43756049)
12. Glasser BG, Strauss AL. 1967. The discovery of grounded theory: Strategies for qualitative research. New York: Aldine De Gruyter.
13. Godard B, ten Kate L, Evers-Kiebooms G, Ayme S. 2003. Population genetic screening programmes: Principles, techniques, practices, and policies. Eur J Hum Genet 11:S49-S87.
14. Gustafson SL, Gettig EA, Watt-Morse M, Krishnamurti L. 2007. Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease. Genet Med 9:303-310. (Pubitemid 46788197)
15. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ. 2001. Intention tremor, Parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130. (Pubitemid 32634862)
16. Honnor M, Zubrick SR, Walpole I, Bower C, Goldblatt J. 2000. Population screening for cystic fibrosis in Western Australia: Community response. Am J Med Genet 93:198-204. (Pubitemid 30693603)
17. Janz N, Becker MH. 1984. The health belief model: A decade later. Health Educ Q 11:1-47.
18. McClaren BJ, Delatycki MB, Collins V, Metcalfe SA, Aitken M. 2008. 'It is not in my world': An exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet 16: 435-444.
19. McConkie-Rosell A, Spiridigliozzi GA, Iafolla T, Tarleton J, Lachiewicz AM. 1997. Carrier testing in the fragile X syndrome: Attitudes and opinions of obligate carriers. Am J Med Genet 68:62-69. (Pubitemid 27023843)
20. McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ. 2005. Genetic counseling for fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors. J Genet Couns 14:249-270. (Pubitemid 41095420)
21. McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, Sherman S, Nelson LM, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, Hagerman RJ. 2007. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns 16:593-606. (Pubitemid 350163646)
22. Metcalfe S, Jaques A, Archibald A, Burgess T, Collins V, Henry A, McNamee K, Sheffield L, Slater H, Wake S, Cohen J. 2008. A model for offering carrier screening for fragile X syndrome to nonpregnant women: Results from a pilot study. Genet Med 10:525-535.
23. Musci TJ, Caughey AB. 2005. Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. Am J Obstet Gynecol 192: 1905-1912.
24. Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, Barkai G. 2000. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 20:611-614. (Pubitemid 30598904)
25. Robinson A. 2006. Phenomenology. In: Cluett ER, Bluff R, editors. Principles and practice of research in midwifery. Edinburgh: Churchill Livingstone. pp 187-202.
26. Rousseau F, Morel ML, Rouillard P, Khandjian EW, Morgan W. 1996. Surprisingly low prevalence of FMR1 premutations among males from the general population [abstract]. Am J Hum Genet 59:A188; 1069.
27. Ryynanen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Pertti K. 1999. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. Eur J Hum Genet 7:212-216. (Pubitemid 29150232)
28. Sherman S, Pletcher BA, Driscoll DA. 2005. Fragile X syndrome: Diagnostic and carrier testing. Genet Med 7:584-587. (Pubitemid 41566485)
29. Spence WC, Black SH, Fallon L, Maddalena A, Cummings E, Menapace-Drew G, Bick DP, Levinson G, Schulman JD, Howard-Peebles PN. 1996. Molecular fragile X screening in normal populations. Am J Med Genet 64:181-183. (Pubitemid 126454151)
30. Tambor ES, Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Holtzman NA. 1994. Offering cystic fibrosis carrier screening to an HMO population: Factors associated with utilization. Am J Hum Genet 55:626-637. (Pubitemid 24298960)
31. Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern GJ, Ginott N, Shohat M. 2001. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 69:351-360. (Pubitemid 32695207)
32. van Rijn MA, de Vries BB, Tibben A, van den Ouweland AM, Halley DJ, Niermeijer MF. 1997. DNA testing for fragile X syndrome: Implications for parents and family. J Med Genet 34:907-911. (Pubitemid 27480945)
33. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914. (Pubitemid 121001321)
34. Wildhagen MF, van Os TA, Polder JJ, ten Kate LP, Habbema JD. 1998. Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population. Community Genet 1:36-47.
35. Ziebland S, Herxheimer A. 2008. How patients' experiences contribute to decision making: Illustrations from DIPEx (personal experiences of health and illness). J Nurs Manage 16:433-439.