Ερευνητικό υλικό ΕΚΠΑ

Enhanced interpretation of newborn screening results without analyte cutoff values

Αγγλικά

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%. © 2012 American College of Medical Genetics and Genomics.

2012

Marquardt, G.
Currier, R.
McHugh, D.M.S.
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.A.
Baráth, K.
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, 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.
Castĩeiras 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.
Mei, B.
Hoffman, G.L.

Genetics in Medicine

14

7

648-655

argininosuccinic aciduria; article; controlled study; false negative result; false positive result; fatty acid oxidation; health care quality; human; laboratory test; metabolic disorder; newborn; newborn screening; retrospective study; scoring system; tandem mass spectrometry, Computational Biology; Data Interpretation, Statistical; Databases, Factual; Diagnosis, Differential; False Positive Reactions; Humans; Infant, Newborn; International Cooperation; Metabolome; Minnesota; Multivariate Analysis; Neonatal Screening; Pattern Recognition, Automated; Predictive Value of Tests; Retrospective Studies; Software; Tandem Mass Spectrometry

https://doi.org/10.1038/gim.2012.2

10.1038/gim.2012.2

https://pergamos.lib.uoa.gr/uoa/dl/object/3111100