A model for offering carrier screening for fragile X syndrome to nonpregnant women: Results from a pilot study

Genetics in Medicine

Volumn 10, Issue 7, 2008, Pages 525-535

  Metcalfe, Sylvia ^a,b,h   Jacques, Alice ^a   Archibald, Alison ^a,b   Burgess, Trent ^c   Collins, Veronica ^a   Henry, Anna ^a   McNamee, Kathleen ^d   Sheffield, Leslie ^a,e   Slater, Howard ^a,b,c   Wake, Samantha ^e   Cohen, Jonathan ^f,g  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c Victorian Clinical Genetics Service   (Australia)

^d Family Planning Victoria   (Australia)

^e Genetic Health Services Victoria   (Australia)

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

^g MONASH UNIVERSITY   (Australia)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Carrier screening; Decision making; Fragile X syndrome; Preconception; Program evaluation

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HEALTH CARE QUALITY; HUMAN; MAJOR CLINICAL STUDY; MEDICAL ASSESSMENT; MEDICAL INFORMATION; PRIMARY MEDICAL CARE; QUESTIONNAIRE; SCREENING TEST; ATTITUDE TO HEALTH; AUSTRALIA; GENETICS; HETEROZYGOTE DETECTION; INTERVIEW; METHODOLOGY; PILOT STUDY; PROSPECTIVE STUDY; SOUTHERN BLOTTING;

PRIMER DNA;

ADULT; BLOTTING, SOUTHERN; DNA PRIMERS; FEMALE; FRAGILE X SYNDROME; GENETIC SCREENING; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HETEROZYGOTE DETECTION; HUMANS; INTERVIEWS AS TOPIC; PILOT PROJECTS; PROSPECTIVE STUDIES; VICTORIA;

EID: 52049110786     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31817c036e     Document Type: Article

References (51)

1. Godard B, ten Kate L, Evers-Kiebooms G, Ayme S. Population genetic screening programmes: principles, techniques, practices, and policies. Eur J Hum Genet 2003;11 (suppl 2):S49-87.
2. Wilson JM, Jungner G, Principles and practice of screening for disease. Geneva: WHO, 1968.
3. Burke W, Coughlin SS, Lee NC, Weed DL, Khoury MJ. Application of population screening principles to genetic screening for adult-onset conditions. Genet Test 2001;5:201-211.
4. Khoury MJ, McCabe LL, McCabe ER. Population screening in the age of genomic medicine. N Engl J Med 2003;348:50-58.
5. Sherman S. Epidemiology. In: Hagerman RJ, Hagerman PJ, editors. Fragile X syndrome: diagnosis, treatment, and research. Baltimore: Johns Hopkins University Press, 2002:136-168.
6. Hagerman RJ, Hagerman PJ. Fragile X syndrome: diagnosis, treatment, and research. Baltimore: Johns Hopkins University Press, 2002.
7. Tucker B, Richards RI, Lardelli M. Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. Hum Mol Genet 2006;15:3446-3458.
8. Yan QJ, Rammal M, Tranfaglia M, Bauchwitz RP. Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. Neuropharmacology 2005;49:1053-1066.
9. Nakamoto M, Nalavadi V, Epstein MP, et al. Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc Natl Acad Sci USA 2007;104:15537-15542.
10. McBride SM, Choi CH, Wang Y, et al. Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron 2005;45:753-764.
11. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004;74:805-816.
12. Fu YH, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-1058.
13. Nolin SL, Lewis FA III, Ye LL, et al. Familial transmission of the FMR1 CGG repeat. Am J Hum Genet 1996;59:1252-126.
14. Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 1993;53:1217-1228.
15. Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMR1 gene - and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995;57:1006-1018.
16. Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G. Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests. Prenat Diagn 2007;27:991-994.
17. Wildhagen MF, van Os TA, Polder JJ, ten Kate LP, Habbema JD. Efficacy of cascade testing for fragile X syndrome. J Med Screen 1999;6:70-76.
18. Palomaki GE. Population based prenatal screening for the fragile X syndrome. J Med Screen 1994;1:65-72.
19. Finucane B. Should all pregnant women be offered carrier testing for fragile X syndrome? Clin Obstet Gynecol 1996;39:772-782.
20. Meadows KL, Sherman SL. Fragile X syndrome: examination of issues pertaining to population-based screening. Screening 1996;4:175-192.
21. Wildhagen MF, van Os TA, Polder JJ, ten Kate LP, Habbema JD. Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population. Comm Genet 1998;1:36-47.
22. Toledano-Alhadef H, Basel-Vanagaite L, Magal N, et al. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 2001;69:351-360.
23. Musci TJ, Caughey AB. Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. Am J Obstet Gynecol 2005;192:1905-1912.
24. Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005;7:584-587.
25. McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ. Genetic counseling for fragile X syndrome: updated recommendations of the national society of genetic counselors. J Genet Couns 2005;14:249-270.
26. Cronister A, DiMaio M, Mahoney MJ, Donnenfeld AE, Hallam S. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med 2005;7:246-250.
27. Ryynanen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Pertti K. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. Eur J Hum Genet 1999;7:212-216.
28. Fanos JH, Spangner KA, Musci TJ. Attitudes toward prenatal screening and testing for Fragile X. Genet Med 2006;8:129-133.
29. Anido A, Carlson LM, Sherman SL. Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. J Genet Couns 2007;16:97-104.
30. Anido A, Carlson LM, Taft L, Sherman SL. Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns 2005;14:295-306.
31. Ovretveit J. Planning and managing an evaluation In: Ovretveit J, editor. Evaluating health interventions: an introduction to evaluation of health treatments, services, policies and organizational interventions. Buckingham and Philadelphia: Open University Press, 1998:158-180.
32. Metcalfe SA, Aitken MA, Gaff CL. The importance of program evaluation: how can it be applied to diverse education settings? J Genet Couns 2008;17:170-179.
33. Michie S, Dormandy E, Marteau TM. The multi-dimensional measure of informed choice: a validation study. Patient Educ Couns 2002;48:87-91.
34. Spielberger C, Gorusch R, Luchene R. State trait anxiety inventory: manual. Palo Alto: Consulting Psychologists Press, 1983.
35. Marteau TM, Bekker H. The development of a six-item short-form of the state scale of the Spielberger State-Trait Anxiety Inventory (STAI). Br J Clin Psych 1992;31:301-306.
36. Hasson F, Keeney S, McKenna H. Research guidelines for the Delphi survey technique. J Adv Nursing 2000;32:1008-1015.
37. Strauss A, Corbin J. Basics of qualitative research: techniques and procedures for developing grounded theory. Thousand Oaks, CA: SAGE, 1998.
38. Glasser BG, Strauss AL. The discovery of grounded theory - strategies for qualitative research. New York: Aldine De Gruyter, 1967.
39. Spence WC, Black SH, Fallon L, et al. Molecular fragile X screening in normal populations. Am J Med Genet 1996;64:181-183.
40. Pesso R, Berkenstadt M, Cuckle H, et al. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 2000;20:611-614.
41. McConkie-Rosell A, Spiridigliozzi GA, Lafolla T, Tarleton J, Lachiewicz AM. Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers. Am J Med Genet 1997;68:62-69.
42. McConkie-Rosell A, Spiridigliozzi GA, Rounds K, et al. Parental attitudes regarding carrier testing in children at risk for fragile X syndrome. Am J Med Genet 1999;82:206-211.
43. Skinner D, Sparkman KL, Bailey DB Jr. Screening for Fragile X syndrome: parent attitudes and perspectives. Genet Med 2003;5:378-384.
44. van den Berg M, Timmermans DR, ten Kate LP, van Vugt JM, van der Wal G. Informed decision making in the context of prenatal screening. Patient Educ Couns 2006;63:110-117.
45. Marteau TM, Dormandy E, Michie S. A measure of informed choice. Health Expect 2001;4:99-108.
46. Murray J, Cuckle H, Taylor G, Hewison J. Screening for fragile X syndrome: information needs for health planners. J Med Screen 1997;4:60-94.
47. Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008;10:43-49.
48. Murray A, Youings S, Dennis N, et al. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996;5:727-735.
49. Bodega B, Bione S, Dalpra L, et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 2006;21:952-957.
50. Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 2005;117:376-382.
51. Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet 2007;44:200-204.