메뉴 건너뛰기




Volumn 161, Issue 2, 2013, Pages 301-311

Maternal attitudes to newborn screening for fragile X syndrome

Author keywords

Fragile X syndrome; Maternal attitudes; Newborn screening; Reproductive planning

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; EARLY DIAGNOSIS; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; HEALTH BEHAVIOR; HEALTH CARE PLANNING; HETEROZYGOTE; HUMAN; INHERITANCE; MALE; MATERNAL ATTITUDE; MEDICAL INFORMATION; NEWBORN; NEWBORN SCREENING; PERINATAL PERIOD; PILOT STUDY; PRIORITY JOURNAL;

EID: 84872940246     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35752     Document Type: Article
Times cited : (25)

References (68)
  • 1
    • 63749123267 scopus 로고    scopus 로고
    • Fragile X screening: Attitudes of genetic health professionals
    • Acharya K, Ross L. 2009. Fragile X screening: Attitudes of genetic health professionals. Am J Med Genet Part A 149A:626-632.
    • (2009) Am J Med Genet Part A , vol.149 A , pp. 626-632
    • Acharya, K.1    Ross, L.2
  • 2
    • 84872894482 scopus 로고    scopus 로고
    • Australian Bureau of Statistics. Australian Aboriginal and Torres Strait Islander Births 3301.0.
    • Australian Bureau of Statistics. 2010. Australian Aboriginal and Torres Strait Islander Births 3301.0.
    • (2010)
  • 4
    • 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
  • 5
    • 40949109764 scopus 로고    scopus 로고
    • Ethical, legal, and social concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues
    • Bailey DB Jr, Skinner D, Davis AM, Whitmarsh I, Powell C. 2008. Ethical, legal, and social concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues. Pediatrics 121:e693-e704.
    • (2008) Pediatrics , vol.121
    • Bailey Jr., D.B.1    Skinner, D.2    Davis, A.M.3    Whitmarsh, I.4    Powell, C.5
  • 6
    • 67749101276 scopus 로고    scopus 로고
    • No change in the age of diagnosis for fragile X syndrome: Findings from a national parent survey
    • Bailey DB Jr, Raspa M, Bishop E, Holiday D. 2009. No change in the age of diagnosis for fragile X syndrome: Findings from a national parent survey. Pediatrics 124:527-533.
    • (2009) Pediatrics , vol.124 , pp. 527-533
    • Bailey Jr., D.B.1    Raspa, M.2    Bishop, E.3    Holiday, D.4
  • 8
    • 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
  • 10
    • 84872895725 scopus 로고    scopus 로고
    • Better Start for Children With Disability. Australian Department of Families, Housing, Community Services and Indigenous Affairs. Accessed July 17, 2012.
    • Better Start for Children With Disability. 2011. Australian Department of Families, Housing, Community Services and Indigenous Affairs. http://www.betterstart.net.au Accessed July 17, 2012.
    • (2011)
  • 11
    • 79957897257 scopus 로고    scopus 로고
    • Newborn screening for fragile X syndrome: Do we care what parents think
    • Botkin JR. 2011. Newborn screening for fragile X syndrome: Do we care what parents think? Pediatrics 127:e1593-e1594.
    • (2011) Pediatrics , vol.127
    • Botkin, J.R.1
  • 12
    • 0041321420 scopus 로고    scopus 로고
    • Parental attitudes regarding newborn screening of PKU and DMD
    • Campbell E, Ross LF. 2003. Parental attitudes regarding newborn screening of PKU and DMD. Am J Med Genet Part A 120A:209-214.
    • (2003) Am J Med Genet Part A , vol.120 A , pp. 209-214
    • Campbell, E.1    Ross, L.F.2
  • 14
    • 77955177288 scopus 로고    scopus 로고
    • Commentary on population screening for fragile X syndrome
    • Coffee B. 2010. Commentary on population screening for fragile X syndrome. Genet Med 12:411-412.
    • (2010) Genet Med , vol.12 , pp. 411-412
    • Coffee, B.1
  • 16
    • 18344393077 scopus 로고    scopus 로고
    • Fragile X syndrome carrier screening in the prenatal genetic counselling setting
    • Cronister A, DiMaio M, Mahony MJ, Donnenfeld AE, Hallam S. 2005. Fragile X syndrome carrier screening in the prenatal genetic counselling setting. Genet Med 7:246-250.
    • (2005) Genet Med , vol.7 , pp. 246-250
    • Cronister, A.1    DiMaio, M.2    Mahony, M.J.3    Donnenfeld, A.E.4    Hallam, S.5
  • 17
    • 0037084852 scopus 로고    scopus 로고
    • Premuation and intermediate-size FMR1 alleles on 10572 males form the general population: Loss of an AGG interruption is a late event in generation of fragile X syndrome alleles
    • Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. 2002. Premuation and intermediate-size FMR1 alleles on 10572 males form the general population: Loss of an AGG interruption is a late event in 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
  • 21
    • 79952052294 scopus 로고    scopus 로고
    • Evaluation of the validity and utility of genetic testing for rare diseases
    • Grosse S, Kalman L, Khoury M. 2010. Evaluation of the validity and utility of genetic testing for rare diseases. Adv Exp Med Biol 686:115-131.
    • (2010) Adv Exp Med Biol , vol.686 , pp. 115-131
    • Grosse, S.1    Kalman, L.2    Khoury, M.3
  • 23
    • 57049092347 scopus 로고    scopus 로고
    • Testing for fragile X gene mutations throughout the life span
    • Hagerman RJ, Hagerman PJ. 2008. Testing for fragile X gene mutations throughout the life span. JAMA 300:2419-2421.
    • (2008) JAMA , vol.300 , pp. 2419-2421
    • Hagerman, R.J.1    Hagerman, P.J.2
  • 26
    • 78751627969 scopus 로고    scopus 로고
    • Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening
    • Hantash F, Goos D, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom C. 2010. Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening. Genet Med 12:162-173.
    • (2010) Genet Med , vol.12 , pp. 162-173
    • Hantash, F.1    Goos, D.2    Tsao, D.3    Quan, F.4    Buller-Burckle, A.5    Peng, M.6    Jarvis, M.7    Sun, W.8    Strom, C.9
  • 27
    • 57349153944 scopus 로고    scopus 로고
    • A systematic review of the effects of disclosing carrier results generated through newborn screening
    • Hayeems R, Bytautas J, Miller F. 2008. A systematic review of the effects of disclosing carrier results generated through newborn screening. J Genet Couns 17:538-549.
    • (2008) J Genet Couns , vol.17 , pp. 538-549
    • Hayeems, R.1    Bytautas, J.2    Miller, F.3
  • 29
    • 77955176551 scopus 로고    scopus 로고
    • A systematic review of population screening for fragile X syndrome
    • Hill M, Archibald A, Cohen J, Metcalfe S. 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.1    Archibald, A.2    Cohen, J.3    Metcalfe, S.4
  • 30
    • 84874539508 scopus 로고    scopus 로고
    • Human Genetics Society of Australasia. . Alexandria, NSW, Australia.
    • Human Genetics Society of Australasia. 2011. Newborn bloodspot testing policy. Alexandria, NSW, Australia.
    • (2011) Newborn bloodspot testing policy
  • 31
    • 84872977161 scopus 로고    scopus 로고
    • International Society for Neonatal Screening. ISNS General Guidelines for Neonatal Screening.
    • International Society for Neonatal Screening. 2008. ISNS General Guidelines for Neonatal Screening.
    • (2008)
  • 34
    • 33749010659 scopus 로고    scopus 로고
    • Size bias of fragile X premutation alleles in late-onset movement disorders
    • Jacquemont S, Leehey M, Hagerman R. Beckett L, Hagerman P. 2006. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet 43:804-809.
    • (2006) J Med Genet , vol.43 , pp. 804-809
    • Jacquemont, S.1    Leehey, M.2    Hagerman, R.3    Beckett, L.4    Hagerman, P.5
  • 36
    • 84872924186 scopus 로고    scopus 로고
    • Current trends in newborn screening refusal. 36th Human Genetics Society of Australasia Annual Scientific Meeting, Canberra, Australia.
    • Junek R, Wilcken B. Wiley V. 2012. Current trends in newborn screening refusal. 36th Human Genetics Society of Australasia Annual Scientific Meeting, Canberra, Australia.
    • (2012)
    • Junek, R.1    Wilcken, B.2    Wiley, V.3
  • 37
    • 0034964308 scopus 로고    scopus 로고
    • Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: Integration of gene tests and fetal karyotyping
    • Kallinen J, Marin K, Heinonen S, Mannermaa A, Palotie A, Ryynanen M. 2001. Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: Integration of gene tests and fetal karyotyping. BJOG 108:505-509.
    • (2001) BJOG , vol.108 , pp. 505-509
    • Kallinen, J.1    Marin, K.2    Heinonen, S.3    Mannermaa, A.4    Palotie, A.5    Ryynanen, M.6
  • 38
    • 61949322929 scopus 로고    scopus 로고
    • Pediatricians' knowledge of and attitudes toward fragile X syndrome screening
    • Kemper A, Bailey D. 2009. Pediatricians' knowledge of and attitudes toward fragile X syndrome screening. Acad Pediatr 9:114-117.
    • (2009) Acad Pediatr , vol.9 , pp. 114-117
    • Kemper, A.1    Bailey, D.2
  • 39
    • 56749183594 scopus 로고    scopus 로고
    • Information and consent for newborn screening: Practices and attitudes of service providers
    • Kerruish NJ, Webster D, Dickson N. 2008. Information and consent for newborn screening: Practices and attitudes of service providers. J Med Ethics 34:648-652.
    • (2008) J Med Ethics , vol.34 , pp. 648-652
    • Kerruish, N.J.1    Webster, D.2    Dickson, N.3
  • 40
    • 18544371505 scopus 로고    scopus 로고
    • Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee
    • Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. 2001. Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 3:200-205.
    • (2001) Genet Med , vol.3 , pp. 200-205
    • Maddalena, A.1    Richards, C.S.2    McGinniss, M.J.3    Brothman, A.4    Desnick, R.J.5    Grier, R.E.6    Hirsch, B.7    Jacky, P.8    McDowell, G.A.9    Popovich, B.10    Watson, M.11    Wolff, D.J.12
  • 41
    • 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 R, Pettersen B. 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.5    Pettersen, B.6
  • 44
    • 33645082502 scopus 로고    scopus 로고
    • The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases
    • Migeon BR. 2006. The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. JAMA 295:1428-1433.
    • (2006) JAMA , vol.295 , pp. 1428-1433
    • Migeon, B.R.1
  • 47
    • 33845896312 scopus 로고    scopus 로고
    • Exploring existing and deliberated community perspectives of newborn screening: Informing the development of state and national policy standards in newborn screening and the use of dried blood spots
    • Muchamore I, Morphett L, Barlow-Stewart K. 2006. Exploring existing and deliberated community perspectives of newborn screening: Informing the development of state and national policy standards in newborn screening and the use of dried blood spots. Aust New Zealand Health Policy 3:14.
    • (2006) Aust New Zealand Health Policy , vol.3 , pp. 14
    • Muchamore, I.1    Morphett, L.2    Barlow-Stewart, K.3
  • 52
    • 70349974168 scopus 로고    scopus 로고
    • The state of synapses in fragile X syndrome
    • Pfeiffer BE, Huber KM. 2009. The state of synapses in fragile X syndrome. Neuroscientist 15:549-567.
    • (2009) Neuroscientist , vol.15 , pp. 549-567
    • Pfeiffer, B.E.1    Huber, K.M.2
  • 53
    • 33646799764 scopus 로고    scopus 로고
    • Attitudes of new mothers towards genetics and newborn screening
    • Quinlivan J, Suriadi C. 2006. Attitudes of new mothers towards genetics and newborn screening. J Psychosom Obstet Gynaecol 27:67-72.
    • (2006) J Psychosom Obstet Gynaecol , vol.27 , pp. 67-72
    • Quinlivan, J.1    Suriadi, C.2
  • 54
    • 34249940138 scopus 로고    scopus 로고
    • Fragile X syndrome: Assessment and treatment implications
    • Reiss A, Hall S. 2007. Fragile X syndrome: Assessment and treatment implications. Child Adolesc Psychiatr Clin N Am 16:663-675.
    • (2007) Child Adolesc Psychiatr Clin N Am , vol.16 , pp. 663-675
    • Reiss, A.1    Hall, S.2
  • 56
    • 84872954280 scopus 로고    scopus 로고
    • Fragile X parental opinions towards newborn screening programme for fragile X syndrome. 11th International Congress of Human Genetics, Brisbane, Australia.
    • Rogers C, Boyle J, Christie L, Devitt F, Field M, Turner G. 2006. Fragile X parental opinions towards newborn screening programme for fragile X syndrome. 11th International Congress of Human Genetics, Brisbane, Australia.
    • (2006)
    • Rogers, C.1    Boyle, J.2    Christie, L.3    Devitt, F.4    Field, M.5    Turner, G.6
  • 57
    • 33645575043 scopus 로고    scopus 로고
    • Screening for conditions that do not meet the Wilson and Junger criteria: The case of Duchenne muscular dystropy
    • Ross LF. 2006. Screening for conditions that do not meet the Wilson and Junger criteria: The case of Duchenne muscular dystropy. Am J Hum Genet 140A:914-922.
    • (2006) Am J Hum Genet , vol.140 A , pp. 914-922
    • Ross, L.F.1
  • 58
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMRI gene-And implications for the population genetics of the fragile X syndrome
    • Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. 1995. Prevalence of carriers of premutation-size alleles of the FMRI gene-And implications for the population genetics of the fragile X syndrome. Am J Hum Genet 57:1006-1018.
    • (1995) Am J Hum Genet , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Rouillard, P.2    Morel, M.L.3    Khandjian, E.W.4    Morgan, K.5
  • 60
    • 0142031147 scopus 로고    scopus 로고
    • Screening for fragile X syndrome: Parent attitudes and perspectives
    • Skinner D, Sparkman K, Bailey D. 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.2    Bailey, D.3
  • 64
    • 38749141432 scopus 로고    scopus 로고
    • 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
    • Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. 2008. 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 10:43-49.
    • (2008) J Mol Diagn , vol.10 , pp. 43-49
    • Tassone, F.1    Pan, R.2    Amiri, K.3    Taylor, A.K.4    Hagerman, P.J.5
  • 67
    • 33846017336 scopus 로고    scopus 로고
    • Current status of newborn screening: Decision-making about the conditions to include in screening programs
    • Watson MS. 2006. Current status of newborn screening: Decision-making about the conditions to include in screening programs. Ment Retard Dev Disabil Res Rev 12:230-235.
    • (2006) Ment Retard Dev Disabil Res Rev , vol.12 , pp. 230-235
    • Watson, M.S.1
  • 68
    • 0014345394 scopus 로고
    • Principles and practice of mass screening for disease
    • Wilson JM, Jungner YG. 1968. Principles and practice of mass screening for disease. Bol Oficina Sanit Panam 65:281-393.
    • (1968) Bol Oficina Sanit Panam , vol.65 , pp. 281-393
    • Wilson, J.M.1    Jungner, Y.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.