Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2219
Título: Enhanced interpretation of newborn screening results without analyte cutoff values
Autor: Marquardt, G.
Currier, R.
McHugh, D.M.
Gavrilov, D.
Magera, M.J.
Matern, D.
Oglesbee, D.
Raymond, K.
Rinaldo, P.
Smith, E.H.
Tortorelli, S.
Turgeon, C.T.
Lorey, F.
Wilcken, B.
Wiley, V.
Greed, L.C.
Lewis, B.
Boemer, F.
Schoos, R.
Marie, S.
Vincent, M.F.
Sica, Y.C.
Domingos, M.T.
Al-Thihli, K.
Sinclair, G.
Al-Dirbashi, O.Y.
Chakraborty, P.
Dymerski, M.
Porter, C.
Manning, A.
Seashore, M.R.
Quesada, J.
Reuben, A.
Chrastina, P.
Hornik, P.
Atef Mandour, I.
Atty Sharaf, S.A.
Bodamer, O.
Dy, B.
Torres, J.
Zori, R.
Cheillan, D.
Vianey-Saban, C.
Ludvigson, D.
Stembridge, A.
Bonham, J.
Downing, M.
Dotsikas, Y.
Loukas, Y.L.
Papakonstantinou, V.
Zacharioudakis, G.S.
Baráth, Á.
Karg, E.
Franzson, L.
Jonsson, J.J.
Breen, N.N.
Lesko, B.G.
Berberich, S.L.
Turner, K.
Ruoppolo, M.
Scolamiero, E.
Antonozzi, I.
Carducci, C.
Caruso, U.
Cassanello, M.
la Marca, G.
Pasquini, E.
Di Gangi, I.M.
Giordano, G.
Camilot, M.
Teofoli, F.
Manos, S.M.
Peterson, C.K.
Mayfield Gibson, S.K.
Sevier, D.W.
Lee, S.Y.
Park, H.D.
Khneisser, I.
Browning, P.
Gulamali-Majid, F.
Watson, M.S.
Eaton, R.B.
Sahai, I.
Ruiz, C.
Torres, R.
Seeterlin, S.M.A.
Stanley, E.L.
Hietala, A.
McCann, M.
Campbell, C.
Hopkins, P.V.
de Sain-Van der Velden, M.G.
Elvers, B.
Morrissey, M.A.
Sunny, S.
Knoll, D.
Webster, D.
Frazier, D.M.
McClure, J.D.
Sesser, D.E.
Willis, S.A.
Rocha, H.
Vilarinho, L.
John, C.
Lim, J.
Caldwell, S.G.
Tomashitis, K.
Castiñeiras Ramos, D.E.
Cocho de Juan, J.A.
Rueda Fernández, I.
Yahyaoui Macías, R.
Egea-Mellado, J.M.
González-Gallego, I.
Delgado Pecellin, C.
García-Valdecasas Bermejo, M.S.
Chien, Y.H.
Hwu, W.L.
Childs, T.
McKeever, C.D.
Tanyalcin, T.
Abdulrahman, M.
Queijo, C.
Lemes, A.
Davis, T.
Hoffman, W.
Baker, M.
Hoffman, G.L.
Palavras-chave: Newborn Screening
Doenças Genéticas
Data: Jul-2012
Editora: Nature Publishing Group
Citação: Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16
Resumo: PURPOSE: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. METHODS: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors. RESULTS: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events. CONCLUSION: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2219
ISSN: 1098-3600
Versão do Editor: http://www.nature.com/gim/journal/v14/n7/full/gim20122a.html
Aparece nas colecções:DGH - Artigos em revistas internacionais

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