메뉴 건너뛰기




Volumn 13, Issue 5, 2010, Pages 310-319

Assessing the potential success of cystic fibrosis carrier screening: Lessons learned from tay-sachs disease and β-thalassemia

Author keywords

Beta thalassemia; Carrier screening; Cystic fibrosis; Public health genetics; Tay Sachs disease

Indexed keywords

ARTICLE; BETA THALASSEMIA; COMMUNITY ASSESSMENT; COMPARATIVE STUDY; CONSUMER ADVOCACY; CYPRUS; CYSTIC FIBROSIS; DIAGNOSTIC TEST; DISEASE CARRIER; DISEASE COURSE; DISEASE SEVERITY; GENETIC SCREENING; HIGH RISK POPULATION; HUMAN; INTERVIEW; JEW; OUTCOME ASSESSMENT; PATIENT DECISION MAKING; PATIENT PARTICIPATION; PRIORITY JOURNAL; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SUPPORT GROUP; TAY SACHS DISEASE; UNITED STATES; GENETICS; HETEROZYGOTE DETECTION;

EID: 77954244632     PISSN: 16624246     EISSN: None     Source Type: Journal    
DOI: 10.1159/000253122     Document Type: Article
Times cited : (11)

References (77)
  • 1
    • 0017753428 scopus 로고
    • Tay- Sachs disease: Heterozygote screening and prenatal diagnosis - U.S. experience and world perspective
    • Kaback MM, Nathan TJ, Greenwald S: Tay- Sachs disease: heterozygote screening and prenatal diagnosis - U.S. experience and world perspective. Prog Clin Biol Res 1977; 18: 13-36.
    • (1977) Prog Clin Biol Res , vol.18 , pp. 13-36
    • Kaback, M.M.1    Nathan, T.J.2    Greenwald, S.3
  • 3
    • 0034434840 scopus 로고    scopus 로고
    • Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model
    • Kaback MM: Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000;159(suppl 3):S192-S195.
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 3
    • Kaback, M.M.1
  • 4
    • 0024722735 scopus 로고
    • The cystic fibrosis gene is found
    • Marx JL: The cystic fibrosis gene is found. Science 1989; 245: 923-925.
    • (1989) Science , vol.245 , pp. 923-925
    • Marx, J.L.1
  • 5
    • 0031567183 scopus 로고    scopus 로고
    • Genetic testing for cystic fibrosis
    • Genetic testing for cystic fibrosis. NIH Consens Statement 1997; 15: 1-37.
    • (1997) NIH Consens Statement , vol.15 , pp. 1-37
  • 8
    • 85051690543 scopus 로고    scopus 로고
    • Comité Consultatif National d'Ethique pour les sciences de la vie et de la santé. Report No. 83. Available at, accessed 08/28/09
    • Comité Consultatif National d'Ethique pour les sciences de la vie et de la santé. Le dépistage prénatal géné ralisé de la mucoviscidose. 2004. Report No. 83. Available at http:// www.ccne-ethique.fr/docs/fr/avis083.pdf, accessed 08/28/09.
    • (2004) Le Dépistage Prénatal Généralisé de la Mucoviscidose
  • 9
    • 77954242517 scopus 로고    scopus 로고
    • Department of Health, National Screening Committee, UK: U.K. National Screening Committee - cystic fibrosis screening (in pregnancy). Available at, accessed 08/28/09
    • Department of Health, National Screening Committee, UK: U.K. National Screening Committee - cystic fibrosis screening (in pregnancy). 2006. Available at http://www. screening.nhs.uk/cysticfibrosis-pregnancy, accessed 08/28/09.
    • (2006)
  • 11
    • 4644244713 scopus 로고    scopus 로고
    • Practice patterns of obstetriciangynecologists regarding preconception and prenatal screening for cystic fibrosis
    • Morgan MA, Driscoll DA, Mennuti MT, Schulkin J: Practice patterns of obstetriciangynecologists regarding preconception and prenatal screening for cystic fibrosis. Genet Med 2004; 6: 450-455.
    • (2004) Genet Med , vol.6 , pp. 450-455
    • Ma, M.1    Driscoll, D.A.2    Mennuti, M.T.3    Schulkin, J.4
  • 12
    • 19544391663 scopus 로고    scopus 로고
    • Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening
    • Morgan MA, Driscoll DA, Zinberg S, Schulkin J, Mennuti MT: Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. Obstet Gynecol 2005; 105: 1355-1361.
    • (2005) Obstet Gynecol , vol.105 , pp. 1355-1361
    • Ma, M.1    Driscoll, D.A.2    Zinberg, S.3    Schulkin, J.4    Mennuti, M.T.5
  • 14
    • 0035236766 scopus 로고    scopus 로고
    • Tay-Sachs disease: From clinical description to molecular defect
    • Kaback MM, Desnick RJ: Tay-Sachs disease: from clinical description to molecular defect. Adv Genet 2001; 44: 1-9.
    • (2001) Adv Genet , vol.44 , pp. 1-9
    • Kaback, M.M.1    Desnick, R.J.2
  • 15
    • 0034631379 scopus 로고    scopus 로고
    • Survival in beta-thalassaemia major in the UK: Data from the UK Thalassaemia Register
    • Modell B, Khan M, Darlison M: Survival in beta-thalassaemia major in the UK: data from the UK Thalassaemia Register. Lancet 2000; 355: 2051-2052.
    • (2000) Lancet , vol.355 , pp. 2051-2052
    • Modell, B.1    Khan, M.2    Darlison, M.3
  • 16
    • 0033536288 scopus 로고    scopus 로고
    • The beta-thalassemias
    • Olivieri NF: The beta-thalassemias. N Engl J Med 1999; 341: 99-109.
    • (1999) N Engl J Med , vol.341 , pp. 99-109
    • Olivieri, N.F.1
  • 17
    • 0023502358 scopus 로고
    • Results of programmes for antenatal detection of thalassemia in reducing the incidence of the disorder
    • Cao A: Results of programmes for antenatal detection of thalassemia in reducing the incidence of the disorder. Blood Rev 1987; 1: 169-176.
    • (1987) Blood Rev , vol.1 , pp. 169-176
    • Cao, A.1
  • 18
    • 0019363539 scopus 로고
    • Prevention of thalassaemia in Cyprus
    • Angastiniotis MA, Hadjiminas MG: Prevention of thalassaemia in Cyprus. Lancet 1981; 1: 369-371.
    • (1981) Lancet , vol.1 , pp. 369-371
    • Ma, A.1    Hadjiminas, M.G.2
  • 19
    • 0014930293 scopus 로고
    • Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay
    • O'Brien JS, Okada S, Chen A, Fillerup DL: Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med 1970; 283: 15-20.
    • (1970) N Engl J Med , vol.283 , pp. 15-20
    • O'brien, J.S.1    Okada, S.2    Chen, A.3    Fillerup, D.L.4
  • 21
    • 0026761668 scopus 로고
    • Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews
    • Fernandes MJ, Kaplan F, Clow CL, Hechtman P, Scriver CR: Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews. Genet Epidemiol 1992; 9: 169-175.
    • (1992) Genet Epidemiol , vol.9 , pp. 169-175
    • Fernandes, M.J.1    Kaplan, F.2    Clow, C.L.3    Hechtman, P.4    Scriver, C.R.5
  • 22
    • 0346167696 scopus 로고    scopus 로고
    • Carrier screening and genetic counselling in beta-thalassemia
    • Cao A: Carrier screening and genetic counselling in beta-thalassemia. Int J Hematol 2002; 76(suppl 2):105-113.
    • (2002) Int J Hematol , vol.76 , Issue.SUPPL. 2 , pp. 105-113
    • Cao, A.1
  • 23
    • 4944242299 scopus 로고    scopus 로고
    • Choosing eugenics: How far will nations go to eliminate a genetic disease?
    • A26
    • Guterman L: Choosing eugenics: how far will nations go to eliminate a genetic disease? Chron High Educ 2003; 49:A22-A24, A26.
    • (2003) Chron High Educ , vol.49
    • Guterman, L.1
  • 26
    • 0029798775 scopus 로고    scopus 로고
    • Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and betathalassemia disease carriers in high schools
    • Mitchell JJ, Capua A, Clow C, Scriver CR: Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and betathalassemia disease carriers in high schools. Am J Hum Genet 1996; 59: 793-798.
    • (1996) Am J Hum Genet , vol.59 , pp. 793-798
    • Mitchell, J.J.1    Capua, A.2    Clow, C.3    Scriver, C.R.4
  • 27
    • 0035233041 scopus 로고    scopus 로고
    • Screening and prevention in Tay-Sachs disease: Origins, update, and impact
    • Kaback MM: Screening and prevention in Tay-Sachs disease: origins, update, and impact. Adv Genet 2001; 44: 253-265.
    • (2001) Adv Genet , vol.44 , pp. 253-265
    • Kaback, M.M.1
  • 28
    • 0030800776 scopus 로고    scopus 로고
    • Molecular diagnosis and carrier screening for beta thalassemia
    • Cao A, Saba L, Galanello R, Rosatelli MC: Molecular diagnosis and carrier screening for beta thalassemia. JAMA 1997; 278: 1273-1277.
    • (1997) JAMA , vol.278 , pp. 1273-1277
    • Cao, A.1    Saba, L.2    Galanello, R.3    Rosatelli, M.C.4
  • 30
    • 0035236420 scopus 로고    scopus 로고
    • The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease
    • Ekstein J, Katzenstein H: The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease. Adv Genet 2001; 44: 297-310.
    • (2001) Adv Genet , vol.44 , pp. 297-310
    • Ekstein, J.1    Katzenstein, H.2
  • 31
    • 4644243016 scopus 로고    scopus 로고
    • Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population
    • Kornreich R, Ekstein J, Edelmann L, Desnick RJ: Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med 2004; 6: 415-420.
    • (2004) Genet Med , vol.6 , pp. 415-420
    • Kornreich, R.1    Ekstein, J.2    Edelmann, L.3    Desnick, R.J.4
  • 33
    • 0026678493 scopus 로고
    • Statement of the American Society of Human Genetics on cystic fibrosis carrier screening
    • Statement of the American Society of Human Genetics on cystic fibrosis carrier screening. Am J Hum Genet 1992; 51: 1443-1444.
    • (1992) Am J Hum Genet , vol.51 , pp. 1443-1444
  • 35
    • 4544330253 scopus 로고    scopus 로고
    • Available at, accessed 08/28/09
    • Cystic Fibrosis Foundation: Patient Registry Annual Data Report 2007. Available at http:// www.cff.org/UploadedFiles/research/ClinicalResearch/ 2007-Patient-Registry-Report. pdf, accessed 08/28/09.
    • (2007) Patient Registry Annual Data Report
  • 36
    • 25844466580 scopus 로고    scopus 로고
    • The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: Evidence from the United States Cystic Fibrosis Foundation registry data
    • Lai HJ, Cheng Y, Farrell PM: The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: evidence from the United States Cystic Fibrosis Foundation registry data. J Pediatr 2005; 147(suppl 3):S57-S63.
    • (2005) J Pediatr , vol.147 , Issue.SUPPL. 3
    • Lai, H.J.1    Cheng, Y.2    Farrell, P.M.3
  • 37
    • 0037460729 scopus 로고    scopus 로고
    • Cystic fibrosis
    • Ratjen F, Doring G: Cystic fibrosis. Lancet 2003; 361: 681-689.
    • (2003) Lancet , vol.361 , pp. 681-689
    • Ratjen, F.1    Doring, G.2
  • 38
    • 0027395872 scopus 로고
    • The changing epidemiology of cystic fibrosis
    • FitzSimmons SC: The changing epidemiology of cystic fibrosis. J Pediatr 1993; 122: 1-9.
    • (1993) J Pediatr , vol.122 , pp. 1-9
    • Fitzsimmons, S.C.1
  • 40
    • 0037157787 scopus 로고    scopus 로고
    • Genotype- phenotype correlation in cystic fibrosis: The role of modifier genes
    • Salvatore F, Scudiero O, Castaldo G: Genotype- phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet 2002; 111: 88-95.
    • (2002) Am J Med Genet , vol.111 , pp. 88-95
    • Salvatore, F.1    Scudiero, O.2    Castaldo, G.3
  • 41
  • 42
    • 0031831238 scopus 로고    scopus 로고
    • Genetic advances in cystic fibrosis: To screen, to treat or both?
    • Super M, Abbott J: Genetic advances in cystic fibrosis: to screen, to treat or both? Disabil Rehabil 1998; 20: 202-208.
    • (1998) Disabil Rehabil , vol.20 , pp. 202-208
    • Super, M.1    Abbott, J.2
  • 43
    • 4944235029 scopus 로고    scopus 로고
    • Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs
    • CDC
    • Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, Wilfond BS; CDC: Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 2004; 53: 1-36.
    • (2004) MMWR Recomm Rep , vol.53 , pp. 1-36
    • Grosse, S.D.1    Boyle, C.A.2    Botkin, J.R.3    Comeau, A.M.4    Kharrazi, M.5    Rosenfeld, M.6    Wilfond, B.S.7
  • 44
    • 25844493613 scopus 로고    scopus 로고
    • Overview of published evidence on outcomes with early diagnosis from large US observational studies
    • Rosenfeld M: Overview of published evidence on outcomes with early diagnosis from large US observational studies. J Pediatr 2005; 147(suppl 3):S11-S14.
    • (2005) J Pediatr , vol.147 , Issue.SUPPL. 3
    • Rosenfeld, M.1
  • 47
    • 4644263276 scopus 로고    scopus 로고
    • Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population
    • Palomaki GE, FitzSimmons SC, Haddow JE: Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med 2004; 6: 405-414.
    • (2004) Genet Med , vol.6 , pp. 405-414
    • Palomaki, G.E.1    Fitzsimmons, S.C.2    Haddow, J.E.3
  • 48
    • 16244394494 scopus 로고    scopus 로고
    • Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent
    • ACOG committee opinion. Number 298, August 2004
    • ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2004; 104: 425-428.
    • (2004) Obstet Gynecol , vol.104 , pp. 425-428
  • 49
    • 77954244834 scopus 로고    scopus 로고
    • Available at, accessed 08/28/09
    • Cystic Fibrosis Foundation: Testing for cystic fibrosis - genetic carrier testing. Available at http://www.cff.org/AboutCF/Testing/GeneticCarrierTest/, accessed 08/28/09.
    • Testing for Cystic Fibrosis - Genetic Carrier Testing
  • 54
    • 33947519787 scopus 로고    scopus 로고
    • Is cystic fibrosis carrier screening cost effective?
    • Wei S, Quigg MH, Monaghan KG: Is cystic fibrosis carrier screening cost effective? Community Genet 2007; 10: 103-109.
    • (2007) Community Genet , vol.10 , pp. 103-109
    • Wei, S.1    Quigg, M.H.2    Monaghan, K.G.3
  • 55
    • 40049109565 scopus 로고    scopus 로고
    • Newborn screening showing decreasing incidence of cystic fibrosis
    • Hale JE, Parad RB, Comeau AM: Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med 2008; 358: 973-974.
    • (2008) N Engl J Med , vol.358 , pp. 973-974
    • Hale, J.E.1    Parad, R.B.2    Comeau, A.M.3
  • 57
    • 0030064794 scopus 로고    scopus 로고
    • Prenatal screening for cystic fibrosis: 5 years experience reviewed
    • Brock DJ: Prenatal screening for cystic fibrosis: 5 years experience reviewed. Lancet 1996; 347: 148-150.
    • (1996) Lancet , vol.347 , pp. 148-150
    • Brock, D.J.1
  • 58
    • 0036265833 scopus 로고    scopus 로고
    • Prenatal screening for cystic fibrosis: An economic analysis
    • Nielsen R, Gyrd-Hansen D: Prenatal screening for cystic fibrosis: an economic analysis. Health Econ 2002; 11: 285-299.
    • (2002) Health Econ , vol.11 , pp. 285-299
    • Nielsen, R.1    Gyrd-Hansen, D.2
  • 59
    • 0027198080 scopus 로고
    • First-trimester fetal screening of cystic fibrosis in lowrisk population
    • Brambati B, Tului L, Fattore S: First-trimester fetal screening of cystic fibrosis in lowrisk population. Lancet 1993; 342: 624.
    • (1993) Lancet , vol.342 , pp. 624
    • Brambati, B.1    Tului, L.2    Fattore, S.3
  • 62
    • 0029943937 scopus 로고    scopus 로고
    • Psychological and social impact of carrier screening for cystic fibrosis among pregnant woman - a pilot study
    • Clausen H, Brandt NJ, Schwartz M, Skovby F: Psychological and social impact of carrier screening for cystic fibrosis among pregnant women - a pilot study. Clin Genet 1996; 49: 200-205. (Pubitemid 26237104)
    • (1996) Clinical Genetics , vol.49 , Issue.4 , pp. 200-205
    • Clausen, H.1    Brandt, N.J.2    Schwartz, M.3    Skovby, F.4
  • 63
  • 65
    • 0026737621 scopus 로고
    • Effect of introducing prenatal diagnosis on the reproductive behaviour of families at risk for cystic fibrosis. A cohort study
    • Borgo G, Fabiano T, Perobelli S, Mastella G: Effect of introducing prenatal diagnosis on the reproductive behaviour of families at risk for cystic fibrosis. A cohort study. Prenat Diagn 1992; 12: 821-830.
    • (1992) Prenat Diagn , vol.12 , pp. 821-830
    • Borgo, G.1    Fabiano, T.2    Perobelli, S.3    Mastella, G.4
  • 66
    • 0025894079 scopus 로고
    • Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children
    • Boue J, Muller F, Simon-Bouy B, Faure C, Boue A: Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children. Prenat Diagn 1991; 11: 209-214.
    • (1991) Prenat Diagn , vol.11 , pp. 209-214
    • Boue, J.1    Muller, F.2    Simon-Bouy, B.3    Faure, C.4    Boue, A.5
  • 68
    • 0026599103 scopus 로고
    • Mutations of the cystic fibrosis gene locus within the population of the Northwest of England
    • Super M, Schwarz MJ: Mutations of the cystic fibrosis gene locus within the population of the Northwest of England. Eur J Pediatr 1992; 151: 108-111.
    • (1992) Eur J Pediatr , vol.151 , pp. 108-111
    • Super, M.1    Schwarz, M.J.2
  • 70
    • 0029872807 scopus 로고    scopus 로고
    • Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population
    • Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X: Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population. Prenat Diagn 1996; 16: 215-222.
    • (1996) Prenat Diagn , vol.16 , pp. 215-222
    • Casals, T.1    Gimenez, J.2    Ramos, M.D.3    Nunes, V.4    Estivill, X.5
  • 73
    • 0037100079 scopus 로고    scopus 로고
    • Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families
    • Henneman L, Kooij L, Bouman K, ten Kate LP: Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families. Am J Med Genet 2002; 110: 324-331.
    • (2002) Am J Med Genet , vol.110 , pp. 324-331
    • Henneman, L.1    Kooij, L.2    Bouman, K.3    Ten Kate, L.P.4
  • 74
    • 25844516484 scopus 로고    scopus 로고
    • Balancing benefits and risks for cystic fibrosis newborn screening: Implications for policy decisions
    • Wilfond BS, Parad RB, Fost N: Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions. J Pediatr 2005;147(suppl 3):S109-S113.
    • (2005) J Pediatr , vol.147 , Issue.SUPPL. 3
    • Wilfond, B.S.1    Parad, R.B.2    Fost, N.3
  • 76
    • 77954244100 scopus 로고    scopus 로고
    • Available at, accessed 08/28/09
    • Cystic Fibrosis Foundation: Testing for cystic fibrosis - Newborn Screening. Available at http://www.cff.org/AboutCF/Testing/NewbornScreening/, accessed 08/28/09.
    • Testing for Cystic Fibrosis - Newborn Screening


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.