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Enhanced interpretation of newborn screening results without analyte cutoff values

2012-07Journal article Restricted access
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dc.contributor.authorMarquardt, G.
dc.contributor.authorCurrier, R.
dc.contributor.authorMcHugh, D.M.
dc.contributor.authorGavrilov, D.
dc.contributor.authorMagera, M.J.
dc.contributor.authorMatern, D.
dc.contributor.authorOglesbee, D.
dc.contributor.authorRaymond, K.
dc.contributor.authorRinaldo, P.
dc.contributor.authorSmith, E.H.
dc.contributor.authorTortorelli, S.
dc.contributor.authorTurgeon, C.T.
dc.contributor.authorLorey, F.
dc.contributor.authorWilcken, B.
dc.contributor.authorWiley, V.
dc.contributor.authorGreed, L.C.
dc.contributor.authorLewis, B.
dc.contributor.authorBoemer, F.
dc.contributor.authorSchoos, R.
dc.contributor.authorMarie, S.
dc.contributor.authorVincent, M.F.
dc.contributor.authorSica, Y.C.
dc.contributor.authorDomingos, M.T.
dc.contributor.authorAl-Thihli, K.
dc.contributor.authorSinclair, G.
dc.contributor.authorAl-Dirbashi, O.Y.
dc.contributor.authorChakraborty, P.
dc.contributor.authorDymerski, M.
dc.contributor.authorPorter, C.
dc.contributor.authorManning, A.
dc.contributor.authorSeashore, M.R.
dc.contributor.authorQuesada, J.
dc.contributor.authorReuben, A.
dc.contributor.authorChrastina, P.
dc.contributor.authorHornik, P.
dc.contributor.authorAtef Mandour, I.
dc.contributor.authorAtty Sharaf, S.A.
dc.contributor.authorBodamer, O.
dc.contributor.authorDy, B.
dc.contributor.authorTorres, J.
dc.contributor.authorZori, R.
dc.contributor.authorCheillan, D.
dc.contributor.authorVianey-Saban, C.
dc.contributor.authorLudvigson, D.
dc.contributor.authorStembridge, A.
dc.contributor.authorBonham, J.
dc.contributor.authorDowning, M.
dc.contributor.authorDotsikas, Y.
dc.contributor.authorLoukas, Y.L.
dc.contributor.authorPapakonstantinou, V.
dc.contributor.authorZacharioudakis, G.S.
dc.contributor.authorBaráth, Á.
dc.contributor.authorKarg, E.
dc.contributor.authorFranzson, L.
dc.contributor.authorJonsson, J.J.
dc.contributor.authorBreen, N.N.
dc.contributor.authorLesko, B.G.
dc.contributor.authorBerberich, S.L.
dc.contributor.authorTurner, K.
dc.contributor.authorRuoppolo, M.
dc.contributor.authorScolamiero, E.
dc.contributor.authorAntonozzi, I.
dc.contributor.authorCarducci, C.
dc.contributor.authorCaruso, U.
dc.contributor.authorCassanello, M.
dc.contributor.authorla Marca, G.
dc.contributor.authorPasquini, E.
dc.contributor.authorDi Gangi, I.M.
dc.contributor.authorGiordano, G.
dc.contributor.authorCamilot, M.
dc.contributor.authorTeofoli, F.
dc.contributor.authorManos, S.M.
dc.contributor.authorPeterson, C.K.
dc.contributor.authorMayfield Gibson, S.K.
dc.contributor.authorSevier, D.W.
dc.contributor.authorLee, S.Y.
dc.contributor.authorPark, H.D.
dc.contributor.authorKhneisser, I.
dc.contributor.authorBrowning, P.
dc.contributor.authorGulamali-Majid, F.
dc.contributor.authorWatson, M.S.
dc.contributor.authorEaton, R.B.
dc.contributor.authorSahai, I.
dc.contributor.authorRuiz, C.
dc.contributor.authorTorres, R.
dc.contributor.authorSeeterlin, S.M.A.
dc.contributor.authorStanley, E.L.
dc.contributor.authorHietala, A.
dc.contributor.authorMcCann, M.
dc.contributor.authorCampbell, C.
dc.contributor.authorHopkins, P.V.
dc.contributor.authorde Sain-Van der Velden, M.G.
dc.contributor.authorElvers, B.
dc.contributor.authorMorrissey, M.A.
dc.contributor.authorSunny, S.
dc.contributor.authorKnoll, D.
dc.contributor.authorWebster, D.
dc.contributor.authorFrazier, D.M.
dc.contributor.authorMcClure, J.D.
dc.contributor.authorSesser, D.E.
dc.contributor.authorWillis, S.A.
dc.contributor.authorRocha, H.
dc.contributor.authorVilarinho, L.
dc.contributor.authorJohn, C.
dc.contributor.authorLim, J.
dc.contributor.authorCaldwell, S.G.
dc.contributor.authorTomashitis, K.
dc.contributor.authorCastiñeiras Ramos, D.E.
dc.contributor.authorCocho de Juan, J.A.
dc.contributor.authorRueda Fernández, I.
dc.contributor.authorYahyaoui Macías, R.
dc.contributor.authorEgea-Mellado, J.M.
dc.contributor.authorGonzález-Gallego, I.
dc.contributor.authorDelgado Pecellin, C.
dc.contributor.authorGarcía-Valdecasas Bermejo, M.S.
dc.contributor.authorChien, Y.H.
dc.contributor.authorHwu, W.L.
dc.contributor.authorChilds, T.
dc.contributor.authorMcKeever, C.D.
dc.contributor.authorTanyalcin, T.
dc.contributor.authorAbdulrahman, M.
dc.contributor.authorQueijo, C.
dc.contributor.authorLemes, A.
dc.contributor.authorDavis, T.
dc.contributor.authorHoffman, W.
dc.contributor.authorBaker, M.
dc.contributor.authorHoffman, G.L.
dc.date.accessioned2014-04-03T12:01:58Z
dc.date.available2014-04-03T12:01:58Z
dc.date.issued2012-07
dc.description.abstractPURPOSE: 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%.por
dc.identifier.citationGenet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16por
dc.identifier.issn1098-3600
dc.identifier.otherdoi: 10.1038/gim.2012.2
dc.identifier.urihttp://hdl.handle.net/10400.18/2219
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherNature Publishing Grouppor
dc.relation.publisherversionhttp://www.nature.com/gim/journal/v14/n7/full/gim20122a.htmlpor
dc.subjectNewborn Screeningpor
dc.subjectDoenças Genéticaspor
dc.titleEnhanced interpretation of newborn screening results without analyte cutoff valuespor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage655por
oaire.citation.startPage648por
oaire.citation.titleGenetics in Medicinepor
oaire.citation.volume14(7)por
rcaap.rightsembargoedAccesspor
rcaap.typearticlepor

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