Abstract
| Original language | English |
|---|---|
| Journal | Genetics in medicine : official journal of the American College of Medical Genetics |
| DOIs | |
| Publication status | Published - Mar 2011 |
Other keywords
- Amino Acids
- Carnitine
- Humans
- Infant, Newborn
- International Cooperation
- Metabolic Diseases
- Neonatal Screening
- Reference Values
- Sensitivity and Specificity
- Software
- Tandem Mass Spectrometry
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In: Genetics in medicine : official journal of the American College of Medical Genetics, 03.2011.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
AU - McHugh, David M S
AU - Cameron, Cynthia A
AU - Abdenur, Jose E
AU - Abdulrahman, Mahera
AU - Adair, Ona
AU - Al Nuaimi, Shahira Ahmed
AU - Åhlman, Henrik
AU - Allen, Jennifer J
AU - Antonozzi, Italo
AU - Archer, Shaina
AU - Au, Sylvia
AU - Auray-Blais, Christiane
AU - Baker, Mei
AU - Bamforth, Fiona
AU - Beckmann, Kinga
AU - Pino, Gessi Bentz
AU - Berberich, Stanton L
AU - Binard, Robert
AU - Boemer, François
AU - Bonham, Jim
AU - Breen, Nancy N
AU - Bryant, Sandra C
AU - Caggana, Michele
AU - Caldwell, S Graham
AU - Camilot, Marta
AU - Campbell, Carlene
AU - Carducci, Claudia
AU - Bryant, Sandra C
AU - Caggana, Michele
AU - Caldwell, S Graham
AU - Camilot, Marta
AU - Campbell, Carlene
AU - Carducci, Claudia
AU - Cariappa, Rohit
AU - Carlisle, Clover
AU - Caruso, Ubaldo
AU - Cassanello, Michela
AU - Castilla, Ane Miren
AU - Ramos, Daisy E Castiñeiras
AU - Chakraborty, Pranesh
AU - Chandrasekar, Ram
AU - Ramos, Alfredo Chardon
AU - Cheillan, David
AU - Chien, Yin-Hsiu
AU - Childs, Thomas A
AU - Chrastina, Petr
AU - Sica, Yuri Cleverthon
AU - de Juan, Jose Angel Cocho
AU - Colandre, Maria Elena
AU - Espinoza, Veronica Cornejo
AU - Corso, Gaetano
AU - Currier, Robert
AU - Cyr, Denis
AU - Czuczy, Noemi
AU - D'Apolito, Oceania
AU - Davis, Tim
AU - de Sain-Van der Velden, Monique G
AU - Delgado Pecellin, Carmen
AU - Di Gangi, Iole Maria
AU - Di Stefano, Cristina Maria
AU - Dotsikas, Yannis
AU - Downing, Melanie
AU - Downs, Stephen M
AU - Dy, Bonifacio
AU - Dymerski, Mark
AU - Rueda, Inmaculada
AU - Elvers, Bert
AU - Eaton, Roger
AU - Eckerd, Barbara M
AU - El Mougy, Fatma
AU - Eroh, Sarah
AU - Espada, Mercedes
AU - Evans, Catherine
AU - Fawbush, Sandy
AU - Fijolek, Kristel F
AU - Fisher, Lawrence
AU - Franzson, Leifur
AU - Frazier, Dianne M
AU - Garcia, Luciana R C
AU - Bermejo, Maria Sierra García-Valdecasas
AU - Gavrilov, Dimitar
AU - Gerace, Rosemarie
AU - Giordano, Giuseppe
AU - Irazabal, Yolanda González
AU - Greed, Lawrence C
AU - Grier, Robert
AU - Grycki, Elyse
AU - Gu, Xuefan
AU - Gulamali-Majid, Fizza
AU - Hagar, Arthur F
AU - Han, Lianshu
AU - Hannon, W Harry
AU - Haslip, Christa
AU - Hassan, Fayza Abdelhamid
AU - He, Miao
AU - Hietala, Amy
AU - Himstedt, Leslie
AU - Hoffman, Gary L
AU - Hoffman, William
AU - Hoggatt, Philis
AU - Hopkins, Patrick V
AU - Hougaard, David M
AU - Hughes, Kerie
AU - Hunt, Patricia R
AU - Hwu, Wuh-Liang
AU - Hynes, June
AU - Ibarra-González, Isabel
AU - Ingham, Cindy A
AU - Ivanova, Maria
AU - Jacox, Ward B
AU - John, Catharine
AU - Johnson, John P
AU - Jónsson, Jón J
AU - Karg, Eszter
AU - Kasper, David
AU - Klopper, Brenda
AU - Katakouzinos, Dimitris
AU - Khneisser, Issam
AU - Knoll, Detlef
AU - Kobayashi, Hirinori
AU - Koneski, Ronald
AU - Kozich, Viktor
AU - Kouapei, Rasoul
AU - Kohlmueller, Dirk
AU - Kremensky, Ivo
AU - la Marca, Giancarlo
AU - Lavochkin, Marcia
AU - Lee, Soo-Youn
AU - Lehotay, Denis C
AU - Lemes, Aida
AU - Lepage, Joyce
AU - Lesko, Barbara
AU - Lewis, Barry
AU - Lim, Carol
AU - Linard, Sharon
AU - Lindner, Martin
AU - Lloyd-Puryear, Michele A
AU - Lorey, Fred
AU - Loukas, Yannis L
AU - Luedtke, Julie
AU - Maffitt, Neil
AU - Magee, J Fergall
AU - Manning, Adrienne
AU - Manos, Shawn
AU - Marie, Sandrine
AU - Hadachi, Sônia Marchezi
AU - Marquardt, Gregg
AU - Martin, Stephen J
AU - Matern, Dietrich
AU - Mayfield Gibson, Stephanie K
AU - Mayne, Philip
AU - McCallister, Tonya D
AU - McCann, Mark
AU - McClure, Julie
AU - McGill, James J
AU - McKeever, Christine D
AU - McNeilly, Barbara
AU - Morrissey, Mark A
AU - Moutsatsou, Paraskevi
AU - Mulcahy, Eleanor A
AU - Nikoloudis, Dimitris
AU - Norgaard-Pedersen, Bent
AU - Oglesbee, Devin
AU - Oltarzewski, Mariusz
AU - Ombrone, Daniela
AU - Ojodu, Jelili
AU - Papakonstantinou, Vagelis
AU - Reoyo, Sherly Pardo
AU - Park, Hyung-Doo
AU - Pasquali, Marzia
AU - Pasquini, Elisabetta
AU - Patel, Pallavi
AU - Pass, Kenneth A
AU - Peterson, Colleen
AU - Pettersen, Rolf D
AU - Pitt, James J
AU - Poh, Sherry
AU - Pollak, Arnold
AU - Porter, Cory
AU - Poston, Philip A
AU - Price, Ricky W
AU - Queijo, Cecilia
AU - Quesada, Jonessy
AU - Randell, Edward
AU - Ranieri, Enzo
AU - Raymond, Kimiyo
AU - Reddic, John E
AU - Reuben, Alejandra
AU - Ricciardi, Charla
AU - Rinaldo, Piero
AU - Rivera, Jeff D
AU - Roberts, Alicia
AU - Rocha, Hugo
AU - Roche, Geraldine
AU - Greenberg, Cheryl Rochman
AU - Mellado, José María Egea
AU - Juan-Fita, María Jesús
AU - Ruiz, Consuelo
AU - Ruoppolo, Margherita
AU - Rutledge, S Lane
AU - Ryu, Euijung
AU - Saban, Christine
AU - Sahai, Inderneel
AU - García-Blanco, Maria Isabel Salazar
AU - Santiago-Borrero, Pedro
AU - Schenone, Andrea
AU - Schoos, Roland
AU - Schweitzer, Barb
AU - Scott, Patricia
AU - Seashore, Margretta R
AU - Seeterlin, Mary A
AU - Sesser, David E
AU - Sevier, Darrin W
AU - Shone, Scott M
AU - Sinclair, Graham
AU - Skrinska, Victor A
AU - Stanley, Eleanor L
AU - Strovel, Erin T
AU - Jones, April L Studinski
AU - Sunny, Sherlykutty
AU - Takats, Zoltan
AU - Tanyalcin, Tijen
AU - Teofoli, Francesca
AU - Thompson, J Robert
AU - Tomashitis, Kathy
AU - Domingos, Mouseline Torquado
AU - Torres, Jasmin
AU - Torres, Rosario
AU - Tortorelli, Silvia
AU - Turi, Sandor
AU - Turner, Kimberley
AU - Tzanakos, Nick
AU - Valiente, Alf G
AU - Vallance, Hillary
AU - Vela-Amieva, Marcela
AU - Vilarinho, Laura
AU - von Döbeln, Ulrika
AU - Vincent, Marie-Francoise
AU - Vorster, B Chris
AU - Watson, Michael S
AU - Webster, Dianne
AU - Weiss, Sheila
AU - Wilcken, Bridget
AU - Wiley, Veronica
AU - Williams, Sharon K
AU - Willis, Sharon A
AU - Woontner, Michael
AU - Wright, Katherine
AU - Yahyaoui, Raquel
AU - Yamaguchi, Seiji
AU - Yssel, Melissa
AU - Zakowicz, Wendy M
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
KW - Amino Acids
KW - Carnitine
KW - Humans
KW - Infant, Newborn
KW - International Cooperation
KW - Metabolic Diseases
KW - Neonatal Screening
KW - Reference Values
KW - Sensitivity and Specificity
KW - Software
KW - Tandem Mass Spectrometry
KW - Amino Acids
KW - Carnitine
KW - Humans
KW - Infant, Newborn
KW - International Cooperation
KW - Metabolic Diseases
KW - Neonatal Screening
KW - Reference Values
KW - Sensitivity and Specificity
KW - Software
KW - Tandem Mass Spectrometry
U2 - 10.1097/GIM.0b013e31820d5e67
DO - 10.1097/GIM.0b013e31820d5e67
M3 - Article
C2 - 21325949
SN - 1530-0366
JO - Genetics in medicine : official journal of the American College of Medical Genetics
JF - Genetics in medicine : official journal of the American College of Medical Genetics
ER -