@article{3111660,
    title = "Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project",
    author = "McHugh, D.M.S. and Cameron, C.A. and Abdenur, J.E. and Abdulrahman, M. and Adair, O. and Al Nuaimi, S.A. and Åhlman, H. and Allen, J.J. and Antonozzi, I. and Archer, S. and Au, S. and Auray-Blais, C. and Baker, M. and Bamforth, F. and Beckmann, K. and Pino, G.B. and Berberich, S.L. and Binard, R. and Boemer, F. and Bonham, J. and Breen, N.N. and Bryant, S.C. and Caggana, M. and Caldwell, S.G. and Camilot, M. and Campbell, C. and Carducci, C. and Cariappa, R. and Carlisle, C. and Caruso, U. and Cassanello, M. and Castilla, A.M. and Ramos, D.E.C. and Chakraborty, P. and Chandrasekar, R. and Ramos, A.C. and Cheillan, D. and Chien, Y.-H. and Childs, T.A. and Chrastina, P. and Sica, Y.C. and Cocho De Juan, J.A. and Colandre, M.E. and Espinoza, V.C. and Corso, G. and Currier, R. and Cyr, D. and Czuczy, N. and D'Apolito, O. and Davis, T. and De Sain-Van Der Velden, M.G. and Pecellin, C.D. and Di Gangi, I.M. and Di Stefano, C.M. and Dotsikas, Y. and Downing, M. and Downs, S.M. and Dy, B. and Dymerski, M. and Rueda, I. and Elvers, B. and Eaton, R. and Eckerd, B.M. and El Mougy, F. and Eroh, S. and Espada, M. and Evans, C. and Fawbush, S. and Fijolek, K.F. and Fisher, L. and Franzson, L. and Frazier, D.M. and Garcia, L.R.C. and Bermejo, M.S.G.-V. and Gavrilov, D. and Gerace, R. and Giordano, G. and Irazabal, Y.G. and Greed, L.C. and Grier, R. and Grycki, E. and Gu, X. and Gulamali-Majid, F. and Hagar, A.F. and Han, L. and Hannon, W.H. and Haslip, C. and Hassan, F.A. and He, M. and Hietala, A. and Himstedt, L. and Hoffman, G.L. and Hoffman, W. and Hoggatt, P. and Hopkins, P.V. and Hougaard, D.M. and Hughes, K. and Hunt, P.R. and Hwu, W.-L. and Hynes, J. and Ibarra-González, I. and Ingham, C.A. and Ivanova, M. and Jacox, W.B. and John, C. and Johnson, J.P. and Jónsson, J.J. and Karg, E. and Kasper, D. and Klopper, B. and Katakouzinos, D. and Khneisser, I. and Knoll, D. and Kobayashi, H. and Koneski, R. and Kožich, V. and Kouapei, R. and Kohlmueller, D. and Kremensky, I. and La Marca, G. and Lavochkin, M. and Lee, S.-Y. and Lehotay, D.C. and Lemes, A. and Lepage, J. and Lesko, B. and Lewis, B. and Lim, C. and Linard, S. and Lindner, M. and Lloyd-Puryear, M.A. and Lorey, F. and Loukas, Y.L. and Luedtke, J. and Maffitt, N. and Magee, J.F. and Manning, A. and Manos, S. and Marie, S. and Hadachi, S.M. and Marquardt, G. and Martin, S.J. and Matern, D. and Gibson, S.K.M. and Mayne, P. and McCallister, T.D. and McCann, M. and McClure, J. and McGill, J.J. and McKeever, C.D. and McNeilly, B. and Morrissey, M.A. and Moutsatsou, P. and Mulcahy, E.A. and Nikoloudis, D. and Norgaard-Pedersen, B. and Oglesbee, D. and Oltarzewski, M. and Ombrone, D. and Ojodu, J. and Papakonstantinou, V. and Reoyo, S.P. and Park, H.-D. and Pasquali, M. and Pasquini, E. and Patel, P. and Pass, K.A. and Peterson, C. and Pettersen, R.D. and Pitt, J.J. and Poh, S. and Pollak, A. and Porter, C. and Poston, P.A. and Price, R.W. and Queijo, C. and Quesada, J. and Randell, E. and Ranieri, E. and Raymond, K. and Reddic, J.E. and Reuben, A. and Ricciardi, C. and Rinaldo, P. and Rivera, J.D. and Roberts, A. and Rocha, H. and Roche, G. and Greenberg, C.R. and Mellado, J.M.E. and Juan-Fita, M.J. and Ruiz, C. and Ruoppolo, M. and Rutledge, S.L. and Ryu, E. and Saban, C. and Sahai, I. and García-Blanco, M.I.S. and Santiago-Borrero, P. and Schenone, A. and Schoos, R. and Schweitzer, B. and Scott, P. and Seashore, M.R. and Seeterlin, M.A. and Sesser, D.E. and Sevier, D.W. and Shone, S.M. and Sinclair, G. and Skrinska, V.A. and Stanley, E.L. and Strovel, E.T. and Jones, A.L.S. and Sunny, S. and Takats, Z. and Tanyalcin, T. and Teofoli, F. and Thompson, J.R. and Tomashitis, K. and Domingos, M.T. and Torres, J. and Torres, R. and Tortorelli, S. and Turi, S. and Turner, K. and Tzanakos, N. and Valiente, A.G. and Vallance, H. and Vela-Amieva, M. and Vilarinho, L. and Von Döbeln, U. and Vincent, M.-F. and Vorster, B.C. and Watson, M.S. and Webster, D. and Weiss, S. and Wilcken, B. and Wiley, V. and Williams, S.K. and Willis, S.A. and Woontner, M. and Wright, K. and Yahyaoui, R. and Yamaguchi, S. and Yssel, M. and Zakowicz, W.M.",
    journal = "Genetics in Medicine",
    year = "2011",
    volume = "13",
    number = "3",
    pages = "230-254",
    issn = "1098-3600, 1530-0366",
    doi = "10.1097/GIM.0b013e31820d5e67",
    keywords = "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",
    abstract = "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."
}