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Volumn 51, Issue 12, 2013, Pages 2227-2232

Prenatal diagnosis of cystic fibrosis: An experience of 181 cases

Author keywords

Amniocentesis; CFTR; CFTR related disorders; Chorionic villi; Cystic fibrosis; Prenatal diagnosis

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA;

EID: 84889574031     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm-2013-0200     Document Type: Article
Times cited : (17)

References (25)
  • 1
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Consensus Panel
    • Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Consensus Panel. J Pediatr 1998;132: 589-95.
    • (1998) J Pediatr , vol.132 , pp. 589-595
    • Rosenstein, B.J.1    Cutting, G.R.2
  • 3
    • 0037214955 scopus 로고    scopus 로고
    • Molecular diagnosis of cystic fibrosis: Comparison of four analytical procedures
    • Tomaiuolo R, Spina M, Castaldo G. Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures. Clin Chem Lab Med 2003;41: 26-32.
    • (2003) Clin Chem Lab Med , vol.41 , pp. 26-32
    • Tomaiuolo, R.1    Spina, M.2    Castaldo, G.3
  • 4
    • 20844457603 scopus 로고    scopus 로고
    • Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in southern Italy population
    • Castaldo G, Polizzi A, Tomaiuolo R, Cazeneuve C, Girodon E, Santostasi T, et al. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in southern Italy population. Ann Hum Genet 2005;69: 15-24.
    • (2005) Ann Hum Genet , vol.69 , pp. 15-24
    • Castaldo, G.1    Polizzi, A.2    Tomaiuolo, R.3    Cazeneuve, C.4    Girodon, E.5    Santostasi, T.6
  • 5
    • 51349128304 scopus 로고    scopus 로고
    • Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study
    • Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Cardillo G, Raia V, et al. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study. J Cyst Fibrosis 2008;7: 347-51.
    • (2008) J Cyst Fibrosis , vol.7 , pp. 347-351
    • Tomaiuolo, R.1    Sangiuolo, F.2    Bombieri, C.3    Bonizzato, A.4    Cardillo, G.5    Raia, V.6
  • 6
    • 84876473247 scopus 로고    scopus 로고
    • Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders
    • doi: 10.1016/j.jmoldx.2013.01.001. [Epub ahead of print]
    • Giordano S, Amato F, Elce A, Monti M, Iannone C, Pucci P, et al. Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. J Mol Diagn 2013 doi: 10.1016/j.jmoldx.2013.01.001. [Epub ahead of print]
    • (2013) J Mol Diagn
    • Giordano, S.1    Amato, F.2    Elce, A.3    Monti, M.4    Iannone, C.5    Pucci, P.6
  • 7
    • 84875428152 scopus 로고    scopus 로고
    • Gene mutation in MicroRNA target sites of CFTR gene: A novel pathogenetic mechanism in cystic fibrosis?
    • doi: 10.1371/journal.pone.0060448
    • Amato F, Seia M, Giordano S, Elce A, Zarrilli F, Castaldo G, et al. Gene mutation in MicroRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis? PLoS ONE 2013 8(3): e60448. doi: 10.1371/journal.pone. 0060448.
    • (2013) PLoS ONE , vol.8 , Issue.3
    • Amato, F.1    Seia, M.2    Giordano, S.3    Elce, A.4    Zarrilli, F.5    Castaldo, G.6
  • 9
    • 0034257089 scopus 로고    scopus 로고
    • Prenatal diagnosis of cystic fibrosis: A case of twin pregnancy diagnosis and a review of 5 years' experience [review]
    • Castaldo G, Martinelli P, Massa C, Fuccio A, Grosso M, Rippa E, et al. Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years' experience [review]. Clin Chim Acta 2000;298: 121-33.
    • (2000) Clin Chim Acta , vol.298 , pp. 121-133
    • Castaldo, G.1    Martinelli, P.2    Massa, C.3    Fuccio, A.4    Grosso, M.5    Rippa, E.6
  • 10
    • 0035254204 scopus 로고    scopus 로고
    • Liver expression in cystic fibrosis could be modulated by genetic factors different from the Cystic Fibrosis Transmembrane Regulator genotype
    • Castaldo G, Fuccio A, Salvatore D, Raia V, Santostasi T, Leonardi S, et al. Liver expression in cystic fibrosis could be modulated by genetic factors different from the Cystic Fibrosis Transmembrane Regulator genotype. Am J Med Genet 2001;98: 294-7.
    • (2001) Am J Med Genet , vol.98 , pp. 294-297
    • Castaldo, G.1    Fuccio, A.2    Salvatore, D.3    Raia, V.4    Santostasi, T.5    Leonardi, S.6
  • 11
    • 3042767197 scopus 로고    scopus 로고
    • Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France)
    • De Braekeleer M, Rault G, Bellis G. Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France). J Hum Genet 2004;49: 285-9.
    • (2004) J Hum Genet , vol.49 , pp. 285-289
    • De Braekeleer, M.1    Rault, G.2    Bellis, G.3
  • 12
    • 41149152804 scopus 로고    scopus 로고
    • Prenatal diagnosis of cystic fibrosis: The 18-year experience of Brittany (western France)
    • Scotet V, Dugueperoux I, Audrezet MP, Blayau M, Boisseau P, Journel H, et al. Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France). Prenat Diagn 2008;28: 197-202.
    • (2008) Prenat Diagn , vol.28 , pp. 197-202
    • Scotet, V.1    Dugueperoux, I.2    Audrezet, M.P.3    Blayau, M.4    Boisseau, P.5    Journel, H.6
  • 13
    • 84889595225 scopus 로고    scopus 로고
    • Multidisciplinarity and interdisciplinarity at work: The prenatal diagnosis
    • Salvatore F. Multidisciplinarity and interdisciplinarity at work: the prenatal diagnosis. Editorial. Clin Chem Lab Med 2013;51: 2209-10.
    • (2013) Editorial. Clin Chem Lab Med , vol.51 , pp. 2209-2210
    • Salvatore, F.1
  • 14
    • 84889560248 scopus 로고    scopus 로고
    • Prenatal diagnosis of inherited diseases: The 20 years' experience of an Italian Regional Reference Centre
    • Maruotti GM, Frisso G, Calcagno G, Fortunato G, Castaldo G, Martinelli P, et al. Prenatal diagnosis of inherited diseases: the 20 years' experience of an Italian Regional Reference Centre. Clin Chem Lab Med 2013;51: 2011-7.
    • (2013) Clin Chem Lab Med , vol.51 , pp. 2011-2017
    • Maruotti, G.M.1    Frisso, G.2    Calcagno, G.3    Fortunato, G.4    Castaldo, G.5    Martinelli, P.6
  • 15
    • 67849119963 scopus 로고    scopus 로고
    • High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma
    • Bruno F, Damin F, Causarano V, Galbiati S, Di Carlo G, Seia M, et al. High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma. Clin Chem Lab Med 2009;47: 818-23.
    • (2009) Clin Chem Lab Med , vol.47 , pp. 818-823
    • Bruno, F.1    Damin, F.2    Causarano, V.3    Galbiati, S.4    Di Carlo, G.5    Seia, M.6
  • 16
    • 67650046461 scopus 로고    scopus 로고
    • Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis
    • Elce A, Boccia A, Cardillo G, Giordano S, Tomaiuolo R, Paolella G, et al. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 2009;55: 1372-9.
    • (2009) Clin Chem , vol.55 , pp. 1372-1379
    • Elce, A.1    Boccia, A.2    Cardillo, G.3    Giordano, S.4    Tomaiuolo, R.5    Paolella, G.6
  • 17
    • 0032788968 scopus 로고    scopus 로고
    • Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: Implications in screening for the disease and phenotype characterization for patients with CFTR homozygote mutations
    • Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, et al. Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with CFTR homozygote mutations. Clin Chem 1999;45: 957-62.
    • (1999) Clin Chem , vol.45 , pp. 957-962
    • Castaldo, G.1    Fuccio, A.2    Cazeneuve, C.3    Picci, L.4    Salvatore, D.5    Raia, V.6
  • 18
    • 0029891140 scopus 로고    scopus 로고
    • Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure
    • Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, De Ritis G, et al. Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure. J Med Genet 1996;33: 475-9.
    • (1996) J Med Genet , vol.33 , pp. 475-479
    • Castaldo, G.1    Rippa, E.2    Sebastio, G.3    Raia, V.4    Ercolini, P.5    De Ritis, G.6
  • 19
    • 80051772112 scopus 로고    scopus 로고
    • Enhanced frequency of CFTR gene variants in coupled who are candidates for assisted reproductive technology treatment
    • Tomaiuolo R, Fausto M, Elce A, Strina I, Ranieri A, Amato F, et al. Enhanced frequency of CFTR gene variants in coupled who are candidates for assisted reproductive technology treatment. Clin Chem Lab Med 2011;49: 1289-93.
    • (2011) Clin Chem Lab Med , vol.49 , pp. 1289-1293
    • Tomaiuolo, R.1    Fausto, M.2    Elce, A.3    Strina, I.4    Ranieri, A.5    Amato, F.6
  • 20
    • 57649232744 scopus 로고    scopus 로고
    • Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and -related disorders - Updated European recommendations
    • Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and -related disorders - updated European recommendations. Eur J Hum Genet 2009;17: 51-65.
    • (2009) Eur J Hum Genet , vol.17 , pp. 51-65
    • Dequeker, E.1    Stuhrmann, M.2    Morris, M.A.3    Casals, T.4    Castellani, C.5    Claustres, M.6
  • 21
    • 53249134468 scopus 로고    scopus 로고
    • Regulations and practices of genetic counselling in 38 European countries: The perspective of national representatives
    • Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, et al. Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur J Hum Genet 2008;16: 1208-16.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1208-1216
    • Rantanen, E.1    Hietala, M.2    Kristoffersson, U.3    Nippert, I.4    Schmidtke, J.5    Sequeiros, J.6
  • 22
    • 77955098161 scopus 로고    scopus 로고
    • The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis
    • Winsor EJ, Akoury H, Chitayat D, Steele L, Stockley TL. The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis. Prenat Diagn 2010;30: 746-52.
    • (2010) Prenat Diagn , vol.30 , pp. 746-752
    • Winsor, E.J.1    Akoury, H.2    Chitayat, D.3    Steele, L.4    Stockley, T.L.5
  • 24
    • 77954228225 scopus 로고    scopus 로고
    • Molecular diagnostics: Between chips and customized medicine
    • Castaldo G, Lembo F, Tomaiuolo R. Molecular diagnostics: between chips and customized medicine. Clin Chem Lab Med 2010;48: 973-82.
    • (2010) Clin Chem Lab Med , vol.48 , pp. 973-982
    • Castaldo, G.1    Lembo, F.2    Tomaiuolo, R.3
  • 25
    • 4444346207 scopus 로고    scopus 로고
    • Quality assessment in cytogenetic and molecular genetic testing: The experience of the Italian project on standardisation and quality assurance
    • Taruscio D, Falbo V, Floridia G, Salvatore M, Pescucci C, Cantafora A, et al. Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian project on standardisation and quality assurance. Clin Chem Lab Med 2004;42: 915-21.
    • (2004) Clin Chem Lab Med , vol.42 , pp. 915-921
    • Taruscio, D.1    Falbo, V.2    Floridia, G.3    Salvatore, M.4    Pescucci, C.5    Cantafora, A.6


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