Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
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Authors
McHugh, David M SCameron, Cynthia A
Abdenur, Jose E
Abdulrahman, Mahera
Adair, Ona
Al Nuaimi, Shahira Ahmed
Åhlman, Henrik
Allen, Jennifer J
Antonozzi, Italo
Archer, Shaina
Au, Sylvia
Auray-Blais, Christiane
Baker, Mei
Bamforth, Fiona
Beckmann, Kinga
Pino, Gessi Bentz
Berberich, Stanton L
Binard, Robert
Boemer, François
Bonham, Jim
Breen, Nancy N
Bryant, Sandra C
Caggana, Michele
Caldwell, S Graham
Camilot, Marta
Campbell, Carlene
Carducci, Claudia
Bryant, Sandra C
Caggana, Michele
Caldwell, S Graham
Camilot, Marta
Campbell, Carlene
Carducci, Claudia
Cariappa, Rohit
Carlisle, Clover
Caruso, Ubaldo
Cassanello, Michela
Castilla, Ane Miren
Ramos, Daisy E Castiñeiras
Chakraborty, Pranesh
Chandrasekar, Ram
Ramos, Alfredo Chardon
Cheillan, David
Chien, Yin-Hsiu
Childs, Thomas A
Chrastina, Petr
Sica, Yuri Cleverthon
de Juan, Jose Angel Cocho
Colandre, Maria Elena
Espinoza, Veronica Cornejo
Corso, Gaetano
Currier, Robert
Cyr, Denis
Czuczy, Noemi
D'Apolito, Oceania
Davis, Tim
de Sain-Van der Velden, Monique G
Delgado Pecellin, Carmen
Di Gangi, Iole Maria
Di Stefano, Cristina Maria
Dotsikas, Yannis
Downing, Melanie
Downs, Stephen M
Dy, Bonifacio
Dymerski, Mark
Rueda, Inmaculada
Elvers, Bert
Eaton, Roger
Eckerd, Barbara M
El Mougy, Fatma
Eroh, Sarah
Espada, Mercedes
Evans, Catherine
Fawbush, Sandy
Fijolek, Kristel F
Fisher, Lawrence
Franzson, Leifur
Frazier, Dianne M
Garcia, Luciana R C
Bermejo, Maria Sierra García-Valdecasas
Gavrilov, Dimitar
Gerace, Rosemarie
Giordano, Giuseppe
Irazabal, Yolanda González
Greed, Lawrence C
Grier, Robert
Grycki, Elyse
Gu, Xuefan
Gulamali-Majid, Fizza
Hagar, Arthur F
Han, Lianshu
Hannon, W Harry
Haslip, Christa
Hassan, Fayza Abdelhamid
He, Miao
Hietala, Amy
Himstedt, Leslie
Hoffman, Gary L
Hoffman, William
Hoggatt, Philis
Hopkins, Patrick V
Hougaard, David M
Hughes, Kerie
Hunt, Patricia R
Hwu, Wuh-Liang
Hynes, June
Ibarra-González, Isabel
Ingham, Cindy A
Ivanova, Maria
Jacox, Ward B
John, Catharine
Johnson, John P
Jónsson, Jón J
Karg, Eszter
Kasper, David
Klopper, Brenda
Katakouzinos, Dimitris
Khneisser, Issam
Knoll, Detlef
Kobayashi, Hirinori
Koneski, Ronald
Kozich, Viktor
Kouapei, Rasoul
Kohlmueller, Dirk
Kremensky, Ivo
la Marca, Giancarlo
Lavochkin, Marcia
Lee, Soo-Youn
Lehotay, Denis C
Lemes, Aida
Lepage, Joyce
Lesko, Barbara
Lewis, Barry
Lim, Carol
Linard, Sharon
Lindner, Martin
Lloyd-Puryear, Michele A
Lorey, Fred
Loukas, Yannis L
Luedtke, Julie
Maffitt, Neil
Magee, J Fergall
Manning, Adrienne
Manos, Shawn
Marie, Sandrine
Hadachi, Sônia Marchezi
Marquardt, Gregg
Martin, Stephen J
Matern, Dietrich
Mayfield Gibson, Stephanie K
Mayne, Philip
McCallister, Tonya D
McCann, Mark
McClure, Julie
McGill, James J
McKeever, Christine D
McNeilly, Barbara
Morrissey, Mark A
Moutsatsou, Paraskevi
Mulcahy, Eleanor A
Nikoloudis, Dimitris
Norgaard-Pedersen, Bent
Oglesbee, Devin
Oltarzewski, Mariusz
Ombrone, Daniela
Ojodu, Jelili
Papakonstantinou, Vagelis
Reoyo, Sherly Pardo
Park, Hyung-Doo
Pasquali, Marzia
Pasquini, Elisabetta
Patel, Pallavi
Pass, Kenneth A
Peterson, Colleen
Pettersen, Rolf D
Pitt, James J
Poh, Sherry
Pollak, Arnold
Porter, Cory
Poston, Philip A
Price, Ricky W
Queijo, Cecilia
Quesada, Jonessy
Randell, Edward
Ranieri, Enzo
Raymond, Kimiyo
Reddic, John E
Reuben, Alejandra
Ricciardi, Charla
Rinaldo, Piero
Rivera, Jeff D
Roberts, Alicia
Rocha, Hugo
Roche, Geraldine
Greenberg, Cheryl Rochman
Mellado, José María Egea
Juan-Fita, María Jesús
Ruiz, Consuelo
Ruoppolo, Margherita
Rutledge, S Lane
Ryu, Euijung
Saban, Christine
Sahai, Inderneel
García-Blanco, Maria Isabel Salazar
Santiago-Borrero, Pedro
Schenone, Andrea
Schoos, Roland
Schweitzer, Barb
Scott, Patricia
Seashore, Margretta R
Seeterlin, Mary A
Sesser, David E
Sevier, Darrin W
Shone, Scott M
Sinclair, Graham
Skrinska, Victor A
Stanley, Eleanor L
Strovel, Erin T
Jones, April L Studinski
Sunny, Sherlykutty
Takats, Zoltan
Tanyalcin, Tijen
Teofoli, Francesca
Thompson, J Robert
Tomashitis, Kathy
Domingos, Mouseline Torquado
Torres, Jasmin
Torres, Rosario
Tortorelli, Silvia
Turi, Sandor
Turner, Kimberley
Tzanakos, Nick
Valiente, Alf G
Vallance, Hillary
Vela-Amieva, Marcela
Vilarinho, Laura
von Döbeln, Ulrika
Vincent, Marie-Francoise
Vorster, B Chris
Watson, Michael S
Webster, Dianne
Weiss, Sheila
Wilcken, Bridget
Wiley, Veronica
Williams, Sharon K
Willis, Sharon A
Woontner, Michael
Wright, Katherine
Yahyaoui, Raquel
Yamaguchi, Seiji
Yssel, Melissa
Zakowicz, Wendy M
Issue Date
2011-03
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Genet. Med. 2011, 13(3):230-54Abstract
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.Description
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http://dx.doi.org/10.1097/GIM.0b013e31820d5e67Rights
Archived with thanks to Genetics in medicine : official journal of the American College of Medical Geneticsae974a485f413a2113503eed53cd6c53
10.1097/GIM.0b013e31820d5e67
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