Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3111660 63 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
PURPOSE:: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS:: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS:: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION:: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders. © 2011 Lippincott Williams & Wilkins.
Έτος δημοσίευσης:
2011
Συγγραφείς:
McHugh, D.M.S.
Cameron, C.A.
Abdenur, J.E.
Abdulrahman, M.
Adair, O.
Al Nuaimi, S.A.
Åhlman, H.
Allen, J.J.
Antonozzi, I.
Archer, S.
Au, S.
Auray-Blais, C.
Baker, M.
Bamforth, F.
Beckmann, K.
Pino, G.B.
Berberich, S.L.
Binard, R.
Boemer, F.
Bonham, J.
Breen, N.N.
Bryant, S.C.
Caggana, M.
Caldwell, S.G.
Camilot, M.
Campbell, C.
Carducci, C.
Cariappa, R.
Carlisle, C.
Caruso, U.
Cassanello, M.
Castilla, A.M.
Ramos, D.E.C.
Chakraborty, P.
Chandrasekar, R.
Ramos, A.C.
Cheillan, D.
Chien, Y.-H.
Childs, T.A.
Chrastina, P.
Sica, Y.C.
Cocho De Juan, J.A.
Colandre, M.E.
Espinoza, V.C.
Corso, G.
Currier, R.
Cyr, D.
Czuczy, N.
D'Apolito, O.
Davis, T.
De Sain-Van Der Velden, M.G.
Pecellin, C.D.
Di Gangi, I.M.
Di Stefano, C.M.
Dotsikas, Y.
Downing, M.
Downs, S.M.
Dy, B.
Dymerski, M.
Rueda, I.
Elvers, B.
Eaton, R.
Eckerd, B.M.
El Mougy, F.
Eroh, S.
Espada, M.
Evans, C.
Fawbush, S.
Fijolek, K.F.
Fisher, L.
Franzson, L.
Frazier, D.M.
Garcia, L.R.C.
Bermejo, M.S.G.-V.
Gavrilov, D.
Gerace, R.
Giordano, G.
Irazabal, Y.G.
Greed, L.C.
Grier, R.
Grycki, E.
Gu, X.
Gulamali-Majid, F.
Hagar, A.F.
Han, L.
Hannon, W.H.
Haslip, C.
Hassan, F.A.
He, M.
Hietala, A.
Himstedt, L.
Hoffman, G.L.
Hoffman, W.
Hoggatt, P.
Hopkins, P.V.
Hougaard, D.M.
Hughes, K.
Hunt, P.R.
Hwu, W.-L.
Hynes, J.
Ibarra-González, I.
Ingham, C.A.
Ivanova, M.
Jacox, W.B.
John, C.
Johnson, J.P.
Jónsson, J.J.
Karg, E.
Kasper, D.
Klopper, B.
Katakouzinos, D.
Khneisser, I.
Knoll, D.
Kobayashi, H.
Koneski, R.
Kožich, V.
Kouapei, R.
Kohlmueller, D.
Kremensky, I.
La Marca, G.
Lavochkin, M.
Lee, S.-Y.
Lehotay, D.C.
Lemes, A.
Lepage, J.
Lesko, B.
Lewis, B.
Lim, C.
Linard, S.
Lindner, M.
Lloyd-Puryear, M.A.
Lorey, F.
Loukas, Y.L.
Luedtke, J.
Maffitt, N.
Magee, J.F.
Manning, A.
Manos, S.
Marie, S.
Hadachi, S.M.
Marquardt, G.
Martin, S.J.
Matern, D.
Gibson, S.K.M.
Mayne, P.
McCallister, T.D.
McCann, M.
McClure, J.
McGill, J.J.
McKeever, C.D.
McNeilly, B.
Morrissey, M.A.
Moutsatsou, P.
Mulcahy, E.A.
Nikoloudis, D.
Norgaard-Pedersen, B.
Oglesbee, D.
Oltarzewski, M.
Ombrone, D.
Ojodu, J.
Papakonstantinou, V.
Reoyo, S.P.
Park, H.-D.
Pasquali, M.
Pasquini, E.
Patel, P.
Pass, K.A.
Peterson, C.
Pettersen, R.D.
Pitt, J.J.
Poh, S.
Pollak, A.
Porter, C.
Poston, P.A.
Price, R.W.
Queijo, C.
Quesada, J.
Randell, E.
Ranieri, E.
Raymond, K.
Reddic, J.E.
Reuben, A.
Ricciardi, C.
Rinaldo, P.
Rivera, J.D.
Roberts, A.
Rocha, H.
Roche, G.
Greenberg, C.R.
Mellado, J.M.E.
Juan-Fita, M.J.
Ruiz, C.
Ruoppolo, M.
Rutledge, S.L.
Ryu, E.
Saban, C.
Sahai, I.
García-Blanco, M.I.S.
Santiago-Borrero, P.
Schenone, A.
Schoos, R.
Schweitzer, B.
Scott, P.
Seashore, M.R.
Seeterlin, M.A.
Sesser, D.E.
Sevier, D.W.
Shone, S.M.
Sinclair, G.
Skrinska, V.A.
Stanley, E.L.
Strovel, E.T.
Jones, A.L.S.
Sunny, S.
Takats, Z.
Tanyalcin, T.
Teofoli, F.
Thompson, J.R.
Tomashitis, K.
Domingos, M.T.
Torres, J.
Torres, R.
Tortorelli, S.
Turi, S.
Turner, K.
Tzanakos, N.
Valiente, A.G.
Vallance, H.
Vela-Amieva, M.
Vilarinho, L.
Von Döbeln, U.
Vincent, M.-F.
Vorster, B.C.
Watson, M.S.
Webster, D.
Weiss, S.
Wilcken, B.
Wiley, V.
Williams, S.K.
Willis, S.A.
Woontner, M.
Wright, K.
Yahyaoui, R.
Yamaguchi, S.
Yssel, M.
Zakowicz, W.M.
Περιοδικό:
Genetics in Medicine
Τόμος:
13
Αριθμός / τεύχος:
3
Σελίδες:
230-254
Λέξεις-κλειδιά:
acetylcarnitine; acylcarnitine; alanine; amino acid; arginine; argininosuccinic acid; citrulline; decadienoylcarnitine; decenoylcarnitine; dodecenoylcarnitine; glutamic acid; glutamine; glycine; hexanoylcarnitine; hydroxy butyrylcarnitine; hydroxy oleylcarnitine; hydroxy stearylcarnitine; isoleucine; leucine; methionine; myristoylcarnitine; phenylalanine; propionylcarnitine; stearylcarnitine; succinylacetone; tetradecadienoylcarnitine; tetradecenoylcarnitine; tyrosine; unclassified drug; unindexed drug; valine, 2 methyl 3 hydroxybutyryl CoA dehydrogenase deficiency; 2,4 dienoyl CoA reductase deficiency; argininosuccinic acidemia; article; beta ketothiolase deficiency; biotinidase deficiency; butyryl coenzyme a dehydrogenase deficiency; carbamylphosphate synthase deficiency; carnitine acylcarnitine translocase deficiency; carnitine palmitoyltransferase 1a deficiency; carnitine palmitoyltransferase ii deficiency; childhood adrenoleukodystrophy; citrullinemia type II; computer program; congenital adrenal hyperplasia; congenital hypothyroidism; cyanocobalamin deficiency; disorders of carbohydrate metabolism; ethylmalonic encephalopathy; fatty acid oxidation disorder; formiminoglutamic acidemia; homocystinuria; human; hydroxymethylglutaryl coenzyme a lyase deficiency; hyperargininemia; hyperglycinemia; hypermethioninemia; hyperphenylalaninemia; inborn error of metabolism; isobutyryl CoA dehydrogenase deficiency; isovaleryl CoA dehydrogenase deficiency; lysosome storage disease; major clinical study; malonyl CoA decarboxylase deficiency; maple syrup urine disease; medium chain acyl coenzyme A dehydrogenase deficiency; medium chain ketoacyl CoA thiolase deficiency; methylene tetrahydrofolate reductase deficiency; methylmalonic acidemia; multiple acyl CoA dehydrogenase deficiency; newborn; newborn screening; normal value; ornithine transcarbamylase deficiency; phenylketonuria; propionic acidemia; pyruvate carboxylase deficiency; sensitivity and specificity; tandem mass spectrometry; transient tyrosinemia; trifunctional protein deficiency; tyrosinemia; very long chain acyl CoA dehydrogenase deficiency, Amino Acids; Carnitine; Humans; Infant, Newborn; International Cooperation; Metabolic Diseases; Neonatal Screening; Reference Values; Sensitivity and Specificity; Software; Tandem Mass Spectrometry
Επίσημο URL (Εκδότης):
DOI:
10.1097/GIM.0b013e31820d5e67
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