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

David M S McHugh, Cynthia A. Cameron, Jose E. Abdenur, Mahera Abdulrahman, Ona Adair, Shahira Ahmed Al Nuaimi, Henrik Åhlman, Jennifer J. Allen, Italo Antonozzi, Shaina Archer, Sylvia Au, Christiane Auray-Blais, Mei Baker, Fiona Bamforth, Kinga Beckmann, Gessi Bentz Pino, Stanton L. Berberich, Robert Binard, François Boemer, Jim BonhamNancy 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, Jose Angel Cocho De Juan, Maria Elena Colandre, Veronica Cornejo Espinoza, Gaetano Corso, Robert Currier, Denis Cyr, Noemi Czuczy, Oceania D'Apolito, Tim Davis, Monique G. De Sain-Van Der Velden, Carmen Delgado 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 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 Irazabal, Lawrence C. Greed, Robert 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 L. Hoffman, William Hoffman, Philis Hoggatt, Patrick V. Hopkins, David M. Hougaard, Kerie Hughes, Patricia R. Hunt, Wuh Liang Hwu, June Hynes, Isabel Ibarra-González, Cindy A. Ingham, Maria Ivanova, Ward B. Jacox, Catharine John, John P. Johnson, Jón J. Jónsson, E. Karg, David 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, Aida Lemes, Joyce Lepage, Barbara Lesko, Barry Lewis, Carol Lim, Sharon Linard, Martin Lindner, Michele A. Lloyd-Puryear, Fred Lorey, Yannis L. Loukas, Julie Luedtke, Neil Maffitt, J. Fergall 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 J. McGill, Christine D. McKeever, Barbara McNeilly, Mark A. Morrissey, Paraskevi Moutsatsou, Eleanor A. Mulcahy, Dimitris Nikoloudis, Bent Norgaard-Pedersen, Devin Oglesbee, Mariusz Oltarzewski, Daniela Ombrone, Jelili Ojodu, Vagelis Papakonstantinou, Sherly Pardo Reoyo, Hyung Doo Park, Marzia Pasquali, Elisabetta Pasquini, Pallavi Patel, Kenneth A. Pass, Colleen Peterson, Rolf D. Pettersen, James J. 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, Alicia Roberts, Hugo Rocha, Geraldine Roche, Cheryl Rochman 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 Santiago-Borrero, Andrea Schenone, Roland Schoos, Barb Schweitzer, Patricia Scott, Margretta R. Seashore, Mary A. Seeterlin, David E. Sesser, Darrin W. Sevier, Scott M. Shone, Graham Sinclair, Victor A. Skrinska, Eleanor L. Stanley, Erin T. Strovel, April L Studinski Jones, Sherlykutty Sunny, Zoltan Takats, Tijen Tanyalcin, Francesca Teofoli, J. Robert Thompson, Kathy Tomashitis, Mouseline Torquado Domingos, Jasmin Torres, Rosario Torres, Silvia Tortorelli, S. Túri, Kimberley Turner, Nick Tzanakos, Alf G. Valiente, Hillary Vallance, Marcela Vela-Amieva, Laura Vilarinho, Ulrika Von Döbeln, Marie Francoise Vincent, B. Chris Vorster, Michael S. Watson, Dianne Webster, Sheila Weiss, Bridget Wilcken, Veronica Wiley, Sharon K. Williams, Sharon A. Willis, Michael Woontner, Katherine Wright, Raquel Yahyaoui, Seiji Yamaguchi, Melissa Yssel, Wendy M. Zakowicz

Research output: Contribution to journalArticle

170 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)230-254
Number of pages25
JournalGenetics in Medicine
Volume13
Issue number3
DOIs
Publication statusPublished - Mar 2011

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Tandem Mass Spectrometry
Population
Amino Acids
Sensitivity and Specificity
acylcarnitine

Keywords

  • Acylcarnitines
  • amino acids
  • inborn errors of metabolism
  • newborn screening
  • tandem mass spectrometry

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

McHugh, D. M. S., Cameron, C. A., Abdenur, J. E., Abdulrahman, M., Adair, O., Al Nuaimi, S. A., ... Zakowicz, W. M. (2011). Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. Genetics in Medicine, 13(3), 230-254. https://doi.org/10.1097/GIM.0b013e31820d5e67

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry : A worldwide collaborative project. / McHugh, David M S; Cameron, 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; 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; Cocho De Juan, Jose Angel; 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.; Pecellin, Carmen Delgado; 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, E.; Kasper, David; Klopper, Brenda; Katakouzinos, Dimitris; Khneisser, Issam; Knoll, Detlef; Kobayashi, Hirinori; Koneski, Ronald; Kožich, 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; Gibson, Stephanie K Mayfield; 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; Túri, S.; 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.

In: Genetics in Medicine, Vol. 13, No. 3, 03.2011, p. 230-254.

Research output: Contribution to journalArticle

McHugh, DMS, Cameron, CA, Abdenur, JE, Abdulrahman, M, Adair, O, Al Nuaimi, SA, Åhlman, H, Allen, JJ, Antonozzi, I, Archer, S, Au, S, Auray-Blais, C, Baker, M, Bamforth, F, Beckmann, K, Pino, GB, Berberich, SL, Binard, R, Boemer, F, Bonham, J, Breen, NN, Bryant, SC, Caggana, M, Caldwell, SG, Camilot, M, Campbell, C, Carducci, C, Cariappa, R, Carlisle, C, Caruso, U, Cassanello, M, Castilla, AM, Ramos, DEC, Chakraborty, P, Chandrasekar, R, Ramos, AC, Cheillan, D, Chien, YH, Childs, TA, Chrastina, P, Sica, YC, Cocho De Juan, JA, Colandre, ME, Espinoza, VC, Corso, G, Currier, R, Cyr, D, Czuczy, N, D'Apolito, O, Davis, T, De Sain-Van Der Velden, MG, Pecellin, CD, Di Gangi, IM, Di Stefano, CM, Dotsikas, Y, Downing, M, Downs, SM, Dy, B, Dymerski, M, Rueda, I, Elvers, B, Eaton, R, Eckerd, BM, El Mougy, F, Eroh, S, Espada, M, Evans, C, Fawbush, S, Fijolek, KF, Fisher, L, Franzson, L, Frazier, DM, Garcia, LRC, Bermejo, MSGV, Gavrilov, D, Gerace, R, Giordano, G, Irazabal, YG, Greed, LC, Grier, R, Grycki, E, Gu, X, Gulamali-Majid, F, Hagar, AF, Han, L, Hannon, WH, Haslip, C, Hassan, FA, He, M, Hietala, A, Himstedt, L, Hoffman, GL, Hoffman, W, Hoggatt, P, Hopkins, PV, Hougaard, DM, Hughes, K, Hunt, PR, Hwu, WL, Hynes, J, Ibarra-González, I, Ingham, CA, Ivanova, M, Jacox, WB, John, C, Johnson, JP, Jónsson, JJ, Karg, E, Kasper, D, Klopper, B, Katakouzinos, D, Khneisser, I, Knoll, D, Kobayashi, H, Koneski, R, Kožich, V, Kouapei, R, Kohlmueller, D, Kremensky, I, La Marca, G, Lavochkin, M, Lee, SY, Lehotay, DC, Lemes, A, Lepage, J, Lesko, B, Lewis, B, Lim, C, Linard, S, Lindner, M, Lloyd-Puryear, MA, Lorey, F, Loukas, YL, Luedtke, J, Maffitt, N, Magee, JF, Manning, A, Manos, S, Marie, S, Hadachi, SM, Marquardt, G, Martin, SJ, Matern, D, Gibson, SKM, Mayne, P, McCallister, TD, McCann, M, McClure, J, McGill, JJ, McKeever, CD, McNeilly, B, Morrissey, MA, Moutsatsou, P, Mulcahy, EA, Nikoloudis, D, Norgaard-Pedersen, B, Oglesbee, D, Oltarzewski, M, Ombrone, D, Ojodu, J, Papakonstantinou, V, Reoyo, SP, Park, HD, Pasquali, M, Pasquini, E, Patel, P, Pass, KA, Peterson, C, Pettersen, RD, Pitt, JJ, Poh, S, Pollak, A, Porter, C, Poston, PA, Price, RW, Queijo, C, Quesada, J, Randell, E, Ranieri, E, Raymond, K, Reddic, JE, Reuben, A, Ricciardi, C, Rinaldo, P, Rivera, JD, Roberts, A, Rocha, H, Roche, G, Greenberg, CR, Mellado, JME, Juan-Fita, MJ, Ruiz, C, Ruoppolo, M, Rutledge, SL, Ryu, E, Saban, C, Sahai, I, García-Blanco, MIS, Santiago-Borrero, P, Schenone, A, Schoos, R, Schweitzer, B, Scott, P, Seashore, MR, Seeterlin, MA, Sesser, DE, Sevier, DW, Shone, SM, Sinclair, G, Skrinska, VA, Stanley, EL, Strovel, ET, Jones, ALS, Sunny, S, Takats, Z, Tanyalcin, T, Teofoli, F, Thompson, JR, Tomashitis, K, Domingos, MT, Torres, J, Torres, R, Tortorelli, S, Túri, S, Turner, K, Tzanakos, N, Valiente, AG, Vallance, H, Vela-Amieva, M, Vilarinho, L, Von Döbeln, U, Vincent, MF, Vorster, BC, Watson, MS, Webster, D, Weiss, S, Wilcken, B, Wiley, V, Williams, SK, Willis, SA, Woontner, M, Wright, K, Yahyaoui, R, Yamaguchi, S, Yssel, M & Zakowicz, WM 2011, 'Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project', Genetics in Medicine, vol. 13, no. 3, pp. 230-254. https://doi.org/10.1097/GIM.0b013e31820d5e67
McHugh, David M S ; Cameron, 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 ; 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 ; Cocho De Juan, Jose Angel ; 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. ; Pecellin, Carmen Delgado ; 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, E. ; Kasper, David ; Klopper, Brenda ; Katakouzinos, Dimitris ; Khneisser, Issam ; Knoll, Detlef ; Kobayashi, Hirinori ; Koneski, Ronald ; Kožich, 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 ; Gibson, Stephanie K Mayfield ; 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 ; Túri, S. ; 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. / Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry : A worldwide collaborative project. In: Genetics in Medicine. 2011 ; Vol. 13, No. 3. pp. 230-254.
@article{6570a4cabdeb461c9d53bd6684bf7780,
title = "Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project",
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.",
keywords = "Acylcarnitines, amino acids, inborn errors of metabolism, newborn screening, tandem mass spectrometry",
author = "McHugh, {David M S} and Cameron, {Cynthia A.} and Abdenur, {Jose E.} and Mahera Abdulrahman and Ona Adair and {Al Nuaimi}, {Shahira Ahmed} and Henrik {\AA}hlman and Allen, {Jennifer J.} and Italo Antonozzi and Shaina Archer and Sylvia Au and Christiane Auray-Blais and Mei Baker and Fiona Bamforth and Kinga Beckmann and Pino, {Gessi Bentz} and Berberich, {Stanton L.} and Robert Binard and Fran{\cc}ois Boemer and Jim Bonham and Breen, {Nancy N.} and Bryant, {Sandra C.} and Michele Caggana and Caldwell, {S. Graham} and Marta Camilot and Carlene Campbell and Claudia Carducci and Rohit Cariappa and Clover Carlisle and Ubaldo Caruso and Michela Cassanello and Castilla, {Ane Miren} and Ramos, {Daisy E Casti{\~n}eiras} and Pranesh Chakraborty and Ram Chandrasekar and Ramos, {Alfredo Chardon} and David Cheillan and Chien, {Yin Hsiu} and Childs, {Thomas A.} and Petr Chrastina and Sica, {Yuri Cleverthon} and {Cocho De Juan}, {Jose Angel} and Colandre, {Maria Elena} and Espinoza, {Veronica Cornejo} and Gaetano Corso and Robert Currier and Denis Cyr and Noemi Czuczy and Oceania D'Apolito and Tim Davis and {De Sain-Van Der Velden}, {Monique G.} and Pecellin, {Carmen Delgado} and {Di Gangi}, {Iole Maria} and {Di Stefano}, {Cristina Maria} and Yannis Dotsikas and Melanie Downing and Downs, {Stephen M.} and Bonifacio Dy and Mark Dymerski and Inmaculada Rueda and Bert Elvers and Roger Eaton and Eckerd, {Barbara M.} and {El Mougy}, Fatma and Sarah Eroh and Mercedes Espada and Catherine Evans and Sandy Fawbush and Fijolek, {Kristel F.} and Lawrence Fisher and Leifur Franzson and Frazier, {Dianne M.} and Garcia, {Luciana R C} and Bermejo, {Maria Sierra Garc{\'i}a Valdecasas} and Dimitar Gavrilov and Rosemarie Gerace and Giuseppe Giordano and Irazabal, {Yolanda Gonz{\'a}lez} and Greed, {Lawrence C.} and Robert Grier and Elyse Grycki and Xuefan Gu and Fizza Gulamali-Majid and Hagar, {Arthur F.} and Lianshu Han and Hannon, {W. Harry} and Christa Haslip and Hassan, {Fayza Abdelhamid} and Miao He and Amy Hietala and Leslie Himstedt and Hoffman, {Gary L.} and William Hoffman and Philis Hoggatt and Hopkins, {Patrick V.} and Hougaard, {David M.} and Kerie Hughes and Hunt, {Patricia R.} and Hwu, {Wuh Liang} and June Hynes and Isabel Ibarra-Gonz{\'a}lez and Ingham, {Cindy A.} and Maria Ivanova and Jacox, {Ward B.} and Catharine John and Johnson, {John P.} and J{\'o}nsson, {J{\'o}n J.} and E. Karg and David Kasper and Brenda Klopper and Dimitris Katakouzinos and Issam Khneisser and Detlef Knoll and Hirinori Kobayashi and Ronald Koneski and Viktor Kožich and Rasoul Kouapei and Dirk Kohlmueller and Ivo Kremensky and {La Marca}, Giancarlo and Marcia Lavochkin and Lee, {Soo Youn} and Lehotay, {Denis C.} and Aida Lemes and Joyce Lepage and Barbara Lesko and Barry Lewis and Carol Lim and Sharon Linard and Martin Lindner and Lloyd-Puryear, {Michele A.} and Fred Lorey and Loukas, {Yannis L.} and Julie Luedtke and Neil Maffitt and Magee, {J. Fergall} and Adrienne Manning and Shawn Manos and Sandrine Marie and Hadachi, {S{\^o}nia Marchezi} and Gregg Marquardt and Martin, {Stephen J.} and Dietrich Matern and Gibson, {Stephanie K Mayfield} and Philip Mayne and McCallister, {Tonya D.} and Mark McCann and Julie McClure and McGill, {James J.} and McKeever, {Christine D.} and Barbara McNeilly and Morrissey, {Mark A.} and Paraskevi Moutsatsou and Mulcahy, {Eleanor A.} and Dimitris Nikoloudis and Bent Norgaard-Pedersen and Devin Oglesbee and Mariusz Oltarzewski and Daniela Ombrone and Jelili Ojodu and Vagelis Papakonstantinou and Reoyo, {Sherly Pardo} and Park, {Hyung Doo} and Marzia Pasquali and Elisabetta Pasquini and Pallavi Patel and Pass, {Kenneth A.} and Colleen Peterson and Pettersen, {Rolf D.} and Pitt, {James J.} and Sherry Poh and Arnold Pollak and Cory Porter and Poston, {Philip A.} and Price, {Ricky W.} and Cecilia Queijo and Jonessy Quesada and Edward Randell and Enzo Ranieri and Kimiyo Raymond and Reddic, {John E.} and Alejandra Reuben and Charla Ricciardi and Piero Rinaldo and Rivera, {Jeff D.} and Alicia Roberts and Hugo Rocha and Geraldine Roche and Greenberg, {Cheryl Rochman} and Mellado, {Jos{\'e} Mar{\'i}a Egea} and Juan-Fita, {Mar{\'i}a Jes{\'u}s} and Consuelo Ruiz and Margherita Ruoppolo and Rutledge, {S. Lane} and Euijung Ryu and Christine Saban and Inderneel Sahai and Garc{\'i}a-Blanco, {Maria Isabel Salazar} and Pedro Santiago-Borrero and Andrea Schenone and Roland Schoos and Barb Schweitzer and Patricia Scott and Seashore, {Margretta R.} and Seeterlin, {Mary A.} and Sesser, {David E.} and Sevier, {Darrin W.} and Shone, {Scott M.} and Graham Sinclair and Skrinska, {Victor A.} and Stanley, {Eleanor L.} and Strovel, {Erin T.} and Jones, {April L Studinski} and Sherlykutty Sunny and Zoltan Takats and Tijen Tanyalcin and Francesca Teofoli and Thompson, {J. Robert} and Kathy Tomashitis and Domingos, {Mouseline Torquado} and Jasmin Torres and Rosario Torres and Silvia Tortorelli and S. T{\'u}ri and Kimberley Turner and Nick Tzanakos and Valiente, {Alf G.} and Hillary Vallance and Marcela Vela-Amieva and Laura Vilarinho and {Von D{\"o}beln}, Ulrika and Vincent, {Marie Francoise} and Vorster, {B. Chris} and Watson, {Michael S.} and Dianne Webster and Sheila Weiss and Bridget Wilcken and Veronica Wiley and Williams, {Sharon K.} and Willis, {Sharon A.} and Michael Woontner and Katherine Wright and Raquel Yahyaoui and Seiji Yamaguchi and Melissa Yssel and Zakowicz, {Wendy M.}",
year = "2011",
month = "3",
doi = "10.1097/GIM.0b013e31820d5e67",
language = "English",
volume = "13",
pages = "230--254",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry

T2 - 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 - 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 - Cocho De Juan, Jose Angel

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 - Pecellin, Carmen Delgado

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, E.

AU - Kasper, David

AU - Klopper, Brenda

AU - Katakouzinos, Dimitris

AU - Khneisser, Issam

AU - Knoll, Detlef

AU - Kobayashi, Hirinori

AU - Koneski, Ronald

AU - Kožich, 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 - Gibson, Stephanie K Mayfield

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 - Túri, S.

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 - Acylcarnitines

KW - amino acids

KW - inborn errors of metabolism

KW - newborn screening

KW - tandem mass spectrometry

UR - http://www.scopus.com/inward/record.url?scp=79952194543&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79952194543&partnerID=8YFLogxK

U2 - 10.1097/GIM.0b013e31820d5e67

DO - 10.1097/GIM.0b013e31820d5e67

M3 - Article

C2 - 21325949

AN - SCOPUS:79952194543

VL - 13

SP - 230

EP - 254

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 3

ER -