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

2011; Elsevier BV; Volume: 13; Issue: 3 Linguagem: Inglês

10.1097/gim.0b013e31820d5e67

1530-0366

David McHugh, Cynthia A. Cameron, José E. Abdenur, Mahera Abdulrahman, Ona O. Adair, Shahira Ahmed Al Nuaimi, Henrik Åhlman, Jennifer J. Allen, I. Antonozzi, Shaina Archer, Sylvia Mann Au, Christiane Auray‐Blais, Mei W. Baker, Fiona Bamforth, Kinga Beckmann, Gessi Bentz Pino, Stanton L. Berberich, Robert Binard, François Boemer, Jim Bonham, Nancy N. Breen, Sandra C. Bryant, Michele Caggana, S. Graham Caldwell, Marta Camilot, Carlene Campbell, Claudia Carducci, Rohit Cariappa, Clover Carlisle, Ubaldo Caruso, Michela Cassanello, Ane Miren Castilla, Daisy E. Castiñeiras Ramos, Pranesh Chakraborty, Ram Chandrasekar, Alfredo Chardon Ramos, David Cheillan, Yin‐Hsiu Chien, Thomas A. Childs, Petr Chrastina, Yuri Cleverthon Sica, José Ángel Cocho de Juan, Maria Elena Colandre, Veronica Cornejo Espinoza, Gaetano Corso, Robert J. Currier, Denis Cyr, Noémi Czuczy, Oceania D’Apolito, Tim D. Davis, Monique G. de Sain-van der Velden, Carmen lgado De Pecellin, Iole Maria Di Gangi, Cristina Maria Di Stefano, Yannis Dotsikas, Melanie Downing, Stephen M. Downs, Bonifacio Dy, Mark Dymerski, Inmaculada Rueda, Bert Elvers, Roger B. Eaton, Barbara M. Eckerd, Fatma El‐Mougy, Sarah Eroh, Mercedes Espada, Catherine Evans, Sandy Fawbush, Kristel F. Fijolek, Lawrence Fisher, Leifur Franzson, Dianne M. Frazier, Luciana R.C. Garcia, Maria Sierra García-Valdecasas Bermejo, Dimitar Gavrilov, Rosemarie Gerace, Giuseppe Giordano, Yolanda González, Lawrence Greed, Robert E. Grier, Elyse Grycki, Xuefan Gu, Fizza Gulamali-Majid, Arthur F. Hagar, Lianshu Han, W. Harry Hannon, Christa Haslip, Fayza Abdelhamid Hassan, Miao He, Amy Hietala, Leslie Himstedt, Gary Hoffman, William H. Hoffman, Philis Hoggatt, Patrick V. Hopkins, David M. Hougaard, Kerie Hughes, Patricia Hunt, Wuh‐Liang Hwu, June Hynes, Isabel Ibarra‐González, Cindy A. Ingham, M. Ivanova, Ward B. Jacox, Catharine John, John P. Johnson, Jón J. Jónsson, Eszter Karg, David C. Kasper, Brenda Klopper, Dimitris Katakouzinos, Issam Khneisser, Detlef Knoll, Hirinori Kobayashi, Ronald Koneski, Viktor Kožich, Rasoul Kouapei, Dirk Kohlmueller, Ivo Kremensky, Giancarlo la Marca, Marcia Lavochkin, Soo‐Youn Lee, Denis C. Lehotay, Aída Lemes, Joyce Lepage, Barbara G. Lesko, Barry Lewis, Carol S. Lim, Sharon Linard, Martin Lindner, Michele A. Lloyd-Puryear, Fred Lorey, Yannis L. Loukas, Julie Luedtke, Neil Maffitt, James Magee, Adrienne Manning, Shawn Manos, Sandrine Marie, Sônia Marchezi Hadachi, Gregg Marquardt, Stephen J. Martin, Dietrich Matern, Stephanie K. Mayfield Gibson, Philip Mayne, Tonya D. McCallister, Mark McCann, Julie McClure, James McGill, Christine D. McKeever, Barbara McNeilly, Mark A. Morrissey, Paraskevi Moutsatsou, Eleanor A. Mulcahy, Dimitris Nikoloudis, Bent Nørgaard‐Pedersen, Devin Oglesbee, Mariusz Ołtarzewski, Daniela Ombrone, Jelili Ojodu, Vagelis Papakonstantinou, Sherly Pardo Reoyo, Hyung‐Doo Park, Marzia Pasquali, Elisabetta Pasquini, Pallavi Patel, Kenneth A. Pass, Colleen K. Peterson, Rolf D. Pettersen, James Pitt, Sherry Poh, Arnold Pollak, Cory Porter, Philip A. Poston, Ricky W. Price, Cecilia Queijo, Jonessy Quesada, Edward Randell, Enzo Ranieri, Kimiyo Raymond, John E. Reddic, Alejandra Reuben, Charla Ricciardi, Piero Rinaldo, Jeff D. Rivera, A. Claire Roberts, Hugo Rocha, Géraldine Roche, Cheryl R. Greenberg, José María Egea Mellado, María Jesús Juan-Fita, Consuelo Ruiz, Margherita Ruoppolo, S. Lane Rutledge, Euijung Ryu, Christine Saban, Inderneel Sahai, Maria Isabel Salazar García-Blanco, Pedro J. Santiago-Borrero, Andrea Schenone, Roland Schoos, Barb Schweitzer, Patricia M. Scott, Margretta R. Seashore, Mary Seeterlin, David E. Sesser, Darrin W. Sevier, Scott M. Shone, Graham Sinclair, Victor Skrinska, Eleanor Stanley, Erin T. Strovel, April L. Studinski Jones, Sherlykutty Sunny, Zoltán Takáts, Tijen Tanyalçın, Francesca Teofoli, James R. Thompson, Kathy Tomashitis, Mouseline Torquado Domingos, Jasmin Torres, Rosário Torres, Silvia Tortorelli, Sándor Túri, Kimberley Turner, Nick Tzanakos, A. Valiente, Hilary Vallance, Marcela Vela‐Amieva, Laura Vilarinho, Ulrika von Döbeln, M.-Françoise Vincent, B. Chris Vorster, Michael S. Watson, Dianne Webster, Sheila R. Weiss, Bridget Wilcken, Veronica Wiley, Sharon K. Williams, Sharon Willis, Michael Woontner, Katherine Wright, Raquel Yahyaoui, Seiji Yamaguchi, Melissa Yssel, Wendy M. Zakowicz,

Amino Acid Enzymes and Metabolism

PurposeTo achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort.MethodsCumulative 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.ResultsAs 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).ConclusionAn 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. Genet Med 2011:13(3):230–254.