메뉴 건너뛰기




Volumn 161, Issue 1, 2013, Pages 48-58

"It's about having the choice": Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome

Author keywords

Attitudes; Carrier screening; Community genetics; Fragile X syndrome; Genetic counseling; Population screening; Qualitative research

Indexed keywords

ADOLESCENT; ARTICLE; ATAXIA; EMOTIONALITY; FAMILY DECISION MAKING; FAMILY PLANNING; FEMALE; FRAGILE X SYNDROME; GENETIC COUNSELING; GENETIC SCREENING; HEALTH PERSONNEL ATTITUDE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INFORMED CONSENT; MAJOR CLINICAL STUDY; MALE; MEDICAL DECISION MAKING; PREGNANCY TERMINATION; PRENATAL SCREENING; PRIORITY JOURNAL; RISK BENEFIT ANALYSIS; SOCIAL ASPECT; TREMOR;

EID: 84871704394     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35674     Document Type: Article
Times cited : (28)

References (55)
  • 1
    • 63749123267 scopus 로고    scopus 로고
    • Fragile X screening: Attitudes of genetic health professionals
    • Acharya K, Ross LF. 2009. Fragile X screening: Attitudes of genetic health professionals. Am J Med Genet A 149A:626-632.
    • (2009) Am J Med Genet A , vol.149 A , pp. 626-632
    • Acharya, K.1    Ross, L.F.2
  • 2
    • 33847608680 scopus 로고    scopus 로고
    • Attitudes toward fragile X mutation carrier testing from women identified in a general population survey
    • 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.
    • (2007) J Genet Couns , vol.16 , pp. 97-104
    • Anido, A.1    Carlson, L.M.2    Sherman, S.L.3
  • 3
    • 23244460010 scopus 로고    scopus 로고
    • Women's attitudes toward testing for fragile X carrier status: A qualitative analysis
    • 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.
    • (2005) J Genet Couns , vol.14 , pp. 295-306
    • Anido, A.1    Carlson, L.M.2    Taft, L.3    Sherman, S.L.4
  • 4
    • 71949120009 scopus 로고    scopus 로고
    • It's Something I Need to Consider": Decisions about carrier screening for fragile X syndrome in a population of non-pregnant women
    • 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 A 149A:2731-2738.
    • (2009) Am J Med Genet A , vol.149 A , pp. 2731-2738
    • Archibald, A.D.1    Jaques, A.M.2    Wake, S.3    Collins, V.R.4    Cohen, J.5    Metcalfe, S.A.6
  • 5
    • 84863108389 scopus 로고    scopus 로고
    • Perceived relevance of genetic carrier screening: Observations of the role of health-related life experiences and stage of life in decision making
    • Archibald AD, McClaren BJ. 2012. Perceived relevance of genetic carrier screening: Observations of the role of health-related life experiences and stage of life in decision making. J Community Genet 3:47-54.
    • (2012) J Community Genet , vol.3 , pp. 47-54
    • Archibald, A.D.1    McClaren, B.J.2
  • 6
    • 0037318153 scopus 로고    scopus 로고
    • discovering fragile X syndrome: Family experiences and perceptions
    • Bailey DB Jr, Skinner D, Sparkman KL. 2003. discovering fragile X syndrome: Family experiences and perceptions. Pediatrics 111:407-416.
    • (2003) Pediatrics , vol.111 , pp. 407-416
    • Bailey Jr., D.B.1    Skinner, D.2    Sparkman, K.L.3
  • 7
    • 36148980815 scopus 로고    scopus 로고
    • preconceptional and prenatal screening for fragile X syndrome: Experience with 40,000 tests
    • 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.
    • (2007) Prenat Diagn , vol.27 , pp. 991-994
    • Berkenstadt, M.1    Ries-Levavi, L.2    Cuckle, H.3    Peleg, L.4    Barkai, G.5
  • 8
    • 33645314905 scopus 로고    scopus 로고
    • influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
    • Bodega B, Bione S, Dalpra L, Toniolo D, Ornaghi F, Vegetti W, Ginelli E, Marozzi A. 2006. influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 21:952-957.
    • (2006) Hum Reprod , vol.21 , pp. 952-957
    • Bodega, B.1    Bione, S.2    Dalpra, L.3    Toniolo, D.4    Ornaghi, F.5    Vegetti, W.6    Ginelli, E.7    Marozzi, A.8
  • 9
    • 33750505977 scopus 로고    scopus 로고
    • Using thematic analysis in psychology
    • Braun V, Clarke V. 2006. Using thematic analysis in psychology. Qual Res Psychol 3:77-101.
    • (2006) Qual Res Psychol , vol.3 , pp. 77-101
    • Braun, V.1    Clarke, V.2
  • 10
    • 23944493381 scopus 로고    scopus 로고
    • FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
    • Bretherick KL, Fluker MR, Robinson WP. 2005. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 117:376-382.
    • (2005) Hum Genet , vol.117 , pp. 376-382
    • Bretherick, K.L.1    Fluker, M.R.2    Robinson, W.P.3
  • 13
    • 18344393077 scopus 로고    scopus 로고
    • Fragile X syndrome carrier screening in the prenatal genetic counseling setting
    • 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.
    • (2005) Genet Med , vol.7 , pp. 246-250
    • Cronister, A.1    DiMaio, M.2    Mahoney, M.J.3    Donnenfeld, A.E.4    Hallam, S.5
  • 14
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. 2002. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 11:371-378.
    • (2002) Hum Mol Genet , vol.11 , pp. 371-378
    • Dombrowski, C.1    Levesque, S.2    Morel, M.L.3    Rouillard, P.4    Morgan, K.5    Rousseau, F.6
  • 15
    • 33645419803 scopus 로고    scopus 로고
    • Attitudes toward prenatal screening and testing for fragile X
    • Fanos JH, Spangner KA, Musci TJ. 2006. Attitudes toward prenatal screening and testing for fragile X. Genet Med 8:129-133.
    • (2006) Genet Med , vol.8 , pp. 129-133
    • Fanos, J.H.1    Spangner, K.A.2    Musci, T.J.3
  • 16
    • 69249118680 scopus 로고    scopus 로고
    • Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population
    • Fernandez-Carvajal I, Walichiewicz P, Xiaosen X, Pan R, Hagerman PJ, Tassone F. 2009. Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn 11:324-329.
    • (2009) J Mol Diagn , vol.11 , pp. 324-329
    • Fernandez-Carvajal, I.1    Walichiewicz, P.2    Xiaosen, X.3    Pan, R.4    Hagerman, P.J.5    Tassone, F.6
  • 18
    • 2342512889 scopus 로고    scopus 로고
    • Communicating risk in prenatal genetic testing
    • Gates EA. 2004. Communicating risk in prenatal genetic testing. J Midwifery Womens Health 49:220-227.
    • (2004) J Midwifery Womens Health , vol.49 , pp. 220-227
    • Gates, E.A.1
  • 19
    • 0033724988 scopus 로고    scopus 로고
    • The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families
    • Geva E, Yaron Y, Shomrat R, Ben-Yehuda A, Zabari S, Peretz H, Naiman T, Yeger H, Orr-Urtreger A. 2000. The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families. Genet Test 4:289-292.
    • (2000) Genet Test , vol.4 , pp. 289-292
    • Geva, E.1    Yaron, Y.2    Shomrat, R.3    Ben-Yehuda, A.4    Zabari, S.5    Peretz, H.6    Naiman, T.7    Yeger, H.8    Orr-Urtreger, A.9
  • 21
    • 1342324899 scopus 로고    scopus 로고
    • Population genetic screening programmes: Principles, techniques, practices, and policies
    • 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.
    • (2003) Eur J Hum Genet , vol.11
    • Godard, B.1    ten Kate, L.2    Evers-Kiebooms, G.3    Ayme, S.4
  • 22
    • 0001966753 scopus 로고    scopus 로고
    • The Physical and behavioral phenotype.
    • Hagerman RJ, Hagerman PJ, editors., 3rd edition. Baltimore: The Johns Hopkins University Press. pp -.
    • Hagerman RJ. 2002. The Physical and behavioral phenotype. In: Hagerman RJ, Hagerman PJ, editors. Fragile X syndrome: Diagnosis, treatment and research, 3rd edition. Baltimore: The Johns Hopkins University Press. pp 3-119.
    • (2002) Fragile X syndrome: Diagnosis, treatment and research , pp. 3-119
    • Hagerman, R.J.1
  • 24
    • 0030928116 scopus 로고    scopus 로고
    • Understanding life's lottery: An evaluation of studies of genetic risk awareness
    • Hallowell N, Richards MP. 1997. Understanding life's lottery: An evaluation of studies of genetic risk awareness. J Health Psychol 2:31-43.
    • (1997) J Health Psychol , vol.2 , pp. 31-43
    • Hallowell, N.1    Richards, M.P.2
  • 25
    • 78751631879 scopus 로고    scopus 로고
    • Fmr1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States
    • Hantash FM, Goos DM, Crossley B, Anderson B, Zhang K, Sun W, Strom CM. 2011. Fmr1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genet Med 13:39-45.
    • (2011) Genet Med , vol.13 , pp. 39-45
    • Hantash, F.M.1    Goos, D.M.2    Crossley, B.3    Anderson, B.4    Zhang, K.5    Sun, W.6    Strom, C.M.7
  • 26
    • 77955176551 scopus 로고    scopus 로고
    • A systematic review of population screening for fragile X syndrome
    • Hill MK, Archibald AD, Cohen J, Metcalfe SA. 2010. A systematic review of population screening for fragile X syndrome. Genet Med 12:396-410.
    • (2010) Genet Med , vol.12 , pp. 396-410
    • Hill, M.K.1    Archibald, A.D.2    Cohen, J.3    Metcalfe, S.A.4
  • 27
    • 20444459477 scopus 로고    scopus 로고
    • Economic evaluation of prenatal population screening for fragile X syndrome
    • Hollingsworth B, Harris A. 2005. Economic evaluation of prenatal population screening for fragile X syndrome. Community Genet 8:68-72.
    • (2005) Community Genet , vol.8 , pp. 68-72
    • Hollingsworth, B.1    Harris, A.2
  • 28
    • 0142093572 scopus 로고    scopus 로고
    • Original article pilot screening for fragile X carrier in pregnant women of Southern Taiwan
    • Huang KF, Chen WY, Tsai YC, Lin CC, Chen SH, Tseng CY, Tzeng CC. 2003. Original article pilot screening for fragile X carrier in pregnant women of Southern Taiwan. JCMA 66:204-209.
    • (2003) JCMA , vol.66 , pp. 204-209
    • Huang, K.F.1    Chen, W.Y.2    Tsai, Y.C.3    Lin, C.C.4    Chen, S.H.5    Tseng, C.Y.6    Tzeng, C.C.7
  • 30
    • 79952153658 scopus 로고    scopus 로고
    • Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing
    • Lewis C, Skirton H, Jones R. 2011. Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing? J Genet Couns 20:80-97.
    • (2011) J Genet Couns , vol.20 , pp. 80-97
    • Lewis, C.1    Skirton, H.2    Jones, R.3
  • 34
    • 23244439758 scopus 로고    scopus 로고
    • Genetic counseling for fragile X syndrome: Updated recommendations of the national society of genetic counselors
    • 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.
    • (2005) J Genet Couns , vol.14 , pp. 249-270
    • McConkie-Rosell, A.1    Finucane, B.2    Cronister, A.3    Abrams, L.4    Bennett, R.L.5    Pettersen, B.J.6
  • 37
    • 84869122432 scopus 로고    scopus 로고
    • Carrier screening in preconception consultation in primary care
    • Metcalfe S. 2011. Carrier screening in preconception consultation in primary care. J Community Genet 3:193-203.
    • (2011) J Community Genet , vol.3 , pp. 193-203
    • Metcalfe, S.1
  • 39
    • 20444473233 scopus 로고    scopus 로고
    • Cost-effectiveness analysis of prenatal population-based fragile X carrier screening
    • discussion 1912-1905.
    • Musci TJ, Caughey AB. 2005. Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. Am J Obstet Gynecol 192:1905-1912 ; discussion 1912-1905.
    • (2005) Am J Obstet Gynecol , vol.192 , pp. 1905-1912
    • Musci, T.J.1    Caughey, A.B.2
  • 43
    • 38949084510 scopus 로고    scopus 로고
    • Emotional reaction to fragile X premutation carrier tests among infertile women
    • Pastore LM, Morris WL, Karns LB. 2008. Emotional reaction to fragile X premutation carrier tests among infertile women. J Genet Couns 17:84-91.
    • (2008) J Genet Couns , vol.17 , pp. 84-91
    • Pastore, L.M.1    Morris, W.L.2    Karns, L.B.3
  • 48
    • 27644507366 scopus 로고    scopus 로고
    • Fragile X syndrome: Diagnostic and carrier testing
    • Sherman S, Pletcher BA, Driscoll DA. 2005. Fragile X syndrome: Diagnostic and carrier testing. Genet Med 7:584-587.
    • (2005) Genet Med , vol.7 , pp. 584-587
    • Sherman, S.1    Pletcher, B.A.2    Driscoll, D.A.3
  • 49
    • 0142031147 scopus 로고    scopus 로고
    • Screening for Fragile X Syndrome: Parent Attitudes and Perspectives
    • Skinner D, Sparkman KL, Bailey DB Jr. 2003. Screening for Fragile X Syndrome: Parent Attitudes and Perspectives. Genet Med 5:378-384.
    • (2003) Genet Med , vol.5 , pp. 378-384
    • Skinner, D.1    Sparkman, K.L.2    Bailey Jr, D.B.3
  • 53
    • 0002062482 scopus 로고    scopus 로고
    • Explorative study of costs, effects and savings of screening for female fragile x premutation and full mutation carriers in the general population
    • 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.
    • (1998) Community Genet , vol.1 , pp. 36-47
    • Wildhagen, M.F.1    van Os, T.A.2    Polder, J.J.3    ten Kate, L.P.4    Habbema, J.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.