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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
Genetics in Medicine, Volume 13, No. 3, Year 2011
Notification
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Description
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.
Authors & Co-Authors
McHugh, David M.S.
United States, Rochester
Mayo Medical School
Cameron, Cynthia A.
United States, Saginaw
Michigan Public Health Institute
Abdenur, José E.
United States, Orange
Choc Children‘s uc Irvine School of Medicine
Abdulrahman, Mahera
United Arab Emirates, Dubai
Dubai Heart Centre
Adair, Ona
United States, Harrisburg
Pennsylvania Department of Health
Al Nuaimi, Shahira Ahmed
United Arab Emirates, Dubai
Dubai Heart Centre
Åhlman, Henrik
Sweden, Stockholm
Karolinska Universitetssjukhuset
Allen, Jennifer J.
United States, Oklahoma City
Oklahoma State Department of Health
Antonozzi, Italo
Italy, Rome
Sapienza Università Di Roma
Archer, Shaina
Canada, Edmonton
Alberta Health Services
Au, Sylvia
United States, Honolulu
Hawaii State Department of Health
Auray-Blais, Christiane
Canada, Sherbrooke
Université de Sherbrooke
Baker, Mei
United States, Madison
Wisconsin State Laboratory of Hygiene
Bamforth, Fiona
Canada, Edmonton
Alberta Health Services
Beckmann, Kinga
Germany, Giessen
Screening-zentrum Hessen
Pino, Gessi Bentz
United States, Rochester
Mayo Medical School
Berberich, Stanton L.
United States, Coralville
State Hygienic Laboratory
Binard, Robert
United States, Aurora
University of Colorado Anschutz Medical Campus
Boemer, François
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Bonham, Jim
United Kingdom, Sheffield
Sheffield Children's Nhs Foundation Trust
Breen, Nancy N.
United States, Indianapolis
Indiana Newborn Screening Laboratory
Bryant, Sandra C.
United States, Rochester
Mayo Medical School
Caggana, M.
United States, Albany
New York State Department of Health
Caldwell, S. Graham
United States, Columbia
South Carolina Department of Health and Environmental Control
Camilot, Marta
Italy, Verona
Azienda Ospedaliera Universitaria Integrata Verona
Campbell, Carlene
United States, Jefferson City
Missouri Public Health Laboratory
Carducci, Claudia
Italy, Rome
Sapienza Università Di Roma
Cariappa, Rohit
India, Bangalore
Neogen Laboratories
Carlisle, Clover
United States, Smyrna
Delaware Public Health Laboratory
Caruso, Ubaldo
Italy, Genoa
Istituto Giannina Gaslini
Cassanello, Michela
Italy, Genoa
Istituto Giannina Gaslini
Castilla, Ane Miren
Spain, Bilbao
Basque Government
Ramos, Daisy E.Castiñeiras
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Chakraborty, Pranesh K.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Chandrasekar, Ram
United States, Columbus
Ohio Department of Health
Ramos, Alfredo Chardon
Puerto Rico, San Juan
Puerto Rico Transplant Program
Cheillan, David
France, Lyon
Chu de Lyon
Chien, Yinhsiu
Taiwan, Taipei
National Taiwan University Hospital
Childs, Thomas A.
United States, Nashville
National Health Laboratories
Chrastina, Petr
Czech Republic, Prague
Všeobecná Fakultní Nemocnice V Praze
Sica, Yuri Cleverthon
Brazil, Curitiba
Fundação Ecumênica de Proteção ao Excepcional
Cocho De Juan, Jose Angel
Spain, Santiago de Compostela
Hospital Clínico Universitario de Santiago
Colandre, Maria Elena
Argentina, Buenos Aires
Fundación Para el Estudio de Las Enfermedades Neurometabó Licas
Espinoza, Veronica Cornejo
Chile, Santiago
Universidad de Chile
Corso, Gaetano
Italy, Foggia
Università Degli Studi Di Foggia
Currier, Robert J.
United States, Richmond
California Department of Public Health
Cyr, Denis
Canada, Sherbrooke
Université de Sherbrooke
Czuczy, Noemi
Hungary, Budapest
Semmelweis Egyetem
D'Apolito, Oceania
Italy, Foggia
Università Degli Studi Di Foggia
Davis, Tim
United States, Tumwater
Washington State Department of Health
De Sain-Van Der Velden, Monique G.
Netherlands, Utrecht
University Medical Center Utrecht
Pecellin, Carmen Delgado
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Di Gangi, Iole Maria
Italy, Padua
Università Degli Studi Di Padova
Di Stefano, Cristina Maria
Italy, Salerno
Ospedale Di Nocera Inferiore
Dotsikas, Yannis
Greece, Athens
National and Kapodistrian University of Athens
Downing, Melanie
United Kingdom, Sheffield
Sheffield Children's Nhs Foundation Trust
Downs, Stephen M.
United States, Indianapolis
Indiana University School of Medicine
Dy, Bonifacio
United States, Jacksonville
Florida Newborn Screening Program
Dymerski, Mark
United States, Denver
Colorado Department of Public Health and Environment
Rueda, Inmaculada
Spain, Malaga
Hospital Regional Universitario Carlos Haya
Elvers, Bert
Netherlands, Bilthoven
Rijksinstituut Voor Volksgezondheid en Milieu
Eaton, Roger B.
United States, Boston
New England Newborn Screening Program
Eckerd, Barbara M.
United States, Charleston
West Virginia Department of Health and Human Resources
El Mougy, Fatma Ahmed F.
Egypt, Cairo
Faculty of Medicine
Eroh, Sarah
United States, Little Rock
Arkansas Department of Health
Espada, Mercedes
Spain, Bilbao
Basque Government
Evans, Catherine
United States, Baton Rouge
Louisiana Office of Public Health
Fawbush, Sandy
United States, Frankfort
Kentucky Department for Public Health
Fijolek, Kristel F.
United States, Charleston
West Virginia Department of Health and Human Resources
Fisher, Lawrence
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Franzson, Leifur
Iceland, Reykjavik
Haskoli Islands
Frazier, Dianne M.
United States, Chapel Hill
The University of North Carolina at Chapel Hill
Garcia, Luciana R.C.
Brazil, Sao Paulo
Associação de Pais e Amigos Dos Excepcionais de São Paulo
Bermejo, Maria Sierra García Valdecasas
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Gavrilov, Dimitar
United States, Rochester
Mayo Medical School
Gerace, Rosemarie
Australia, Adelaide
Women's and Children's Hospital Adelaide
Giordano, Giuseppe
Italy, Padua
Università Degli Studi Di Padova
Irazabal, Yolanda González
Spain, Zaragoza
Hospital Miguel Servet
Greed, Lawrence C.
Australia, Perth
Princess Margaret Hospital for Children
Grier, Robert
United States, Detroit
Wayne State University School of Medicine
Grycki, Elyse
United States, Rochester
Mayo Medical School
Gu, Xuefan
China, Shanghai
Shanghai Jiao Tong University School of Medicine
Gulamali-Majid, Fizza
Unknown Affiliation
Hagar, Arthur F.
United States, Atlanta
Human Resources
Han, Lianshu
China, Shanghai
Shanghai Jiao Tong University School of Medicine
Hannon, W. Harry
United States, Atlanta
Centers for Disease Control and Prevention
Haslip, Christa
United States, Salt Lake City
Arup Laboratories
Hassan, Fayza Abdelhamid
Egypt, Cairo
Faculty of Medicine
He, Miao
United States, Atlanta
Emory University
Hietala, Amy
United States, Saint Paul
Minnesota Department of Health
Himstedt, Leslie
United States, Little Rock
Arkansas Department of Health
Hoffman, Gary L.
Germany, Giessen
Screening-zentrum Hessen
Hoffman, William
United States, Tumwater
Washington State Department of Health
Hoggatt, Philis
United States, Jackson
Mississippi State Department of Health
Hopkins, Patrick V.
United States, Jefferson City
Missouri Public Health Laboratory
Hougaard, David Michael
Denmark, Copenhagen
Statens Serum Institut
Hughes, Kerie
United States, Saginaw
Michigan Public Health Institute
Hunt, Patricia R.
United States, Austin
Texas Department of State Health Services
Hwu, Wuh Liang
Taiwan, Taipei
National Taiwan University Hospital
Hynes, June
Canada, St John's
Memorial University of Newfoundland
Statistics
Citations: 303
Authors: 100
Affiliations: 74
Identifiers
Doi:
10.1097/GIM.0b013e31820d5e67
Research Areas
Noncommunicable Diseases
Study Design
Cross Sectional Study