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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. Genet Med 2011: 13(3): 230-254.

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, Ahlman; Jennifer J., Allen; Antonozzi, Italo; Shaina, Archer; Sylvia, Au; Christiane Auray, Blais; Mei, 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; Carducci, Claudia; Rohit, Cariappa; Clover, Carlisle; Ubaldo, Caruso; Michela, Cassanello; Ane Miren, Castilla; D. E. C., Ramos; Pranesh, Chakraborty; Ram, Chandrasekar; Alfredo Chardon, Ramos; David, Cheillan; Yin Hsiu, Chien; Thomas A., Childs; Petr, Chrastina; Yuri Cleverthon, Sica; D. E., Jac 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, Gonzalez; Cindy A., Ingham; Maria, Ivanova; Ward B., Jacox; C., John; John P., Johnson; Jón J., Jonsson; Eszter, Karg; David, Kasper; Brenda, Klopper; Dimitris, Katakouzinos; Issam, Khneisser; Detlef, Knoll; Hirinori, Kobayashi; Ronald, Koneski; Viktor, Kozich; 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; Sonia Marchezi, Hadachi; Gregg, Marquardt; Stephen J., Martin; Dietrich, Matern; S. K. M., 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; Jose Maria Egea, Mellado; Maria Jesús Juan, Fita; Consuelo, Ruiz; Margherita, Ruoppolo; S., Lane Rutledge; Euijung, Ryu; Christine, Saban; Inderneel, Sahai; Maria Isabel Salazar Garcia, 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; A. L. S., Jones; Sherlykutty, Sunny; Zoltan, Takats; Tijen, Tanyalcin; Francesca, Teofoli; J., Robert Thompson; Kathy, Tomashitis; Mouseline Torquado, Domingos; Jasmin, Torres; Rosario, Torres; Silvia, Tortorelli; Sandor, Turi; Kimberley, Turner; Nick, Tzanakos; Alf G., Valiente; Hillary, Vallance; Marcela Vela, Amieva; Laura, Vilarinho; Ulrika Von, Dobeln; 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. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - 13:3(2011), pp. 230-254. [10.1097/gim.0b013e31820d5e67]

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

ANTONOZZI, Italo;CARDUCCI, Claudia;
2011

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. Genet Med 2011: 13(3): 230-254.
2011
tandem mass spectrometry; amino acids; newborn screening; inborn errors of metabolism; acylcarnitines
01 Pubblicazione su rivista::01a Articolo in rivista
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, Ahlman; Jennifer J., Allen; Antonozzi, Italo; Shaina, Archer; Sylvia, Au; Christiane Auray, Blais; Mei, 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; Carducci, Claudia; Rohit, Cariappa; Clover, Carlisle; Ubaldo, Caruso; Michela, Cassanello; Ane Miren, Castilla; D. E. C., Ramos; Pranesh, Chakraborty; Ram, Chandrasekar; Alfredo Chardon, Ramos; David, Cheillan; Yin Hsiu, Chien; Thomas A., Childs; Petr, Chrastina; Yuri Cleverthon, Sica; D. E., Jac 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, Gonzalez; Cindy A., Ingham; Maria, Ivanova; Ward B., Jacox; C., John; John P., Johnson; Jón J., Jonsson; Eszter, Karg; David, Kasper; Brenda, Klopper; Dimitris, Katakouzinos; Issam, Khneisser; Detlef, Knoll; Hirinori, Kobayashi; Ronald, Koneski; Viktor, Kozich; 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; Sonia Marchezi, Hadachi; Gregg, Marquardt; Stephen J., Martin; Dietrich, Matern; S. K. M., 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; Jose Maria Egea, Mellado; Maria Jesús Juan, Fita; Consuelo, Ruiz; Margherita, Ruoppolo; S., Lane Rutledge; Euijung, Ryu; Christine, Saban; Inderneel, Sahai; Maria Isabel Salazar Garcia, 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; A. L. S., Jones; Sherlykutty, Sunny; Zoltan, Takats; Tijen, Tanyalcin; Francesca, Teofoli; J., Robert Thompson; Kathy, Tomashitis; Mouseline Torquado, Domingos; Jasmin, Torres; Rosario, Torres; Silvia, Tortorelli; Sandor, Turi; Kimberley, Turner; Nick, Tzanakos; Alf G., Valiente; Hillary, Vallance; Marcela Vela, Amieva; Laura, Vilarinho; Ulrika Von, Dobeln; 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. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - 13:3(2011), pp. 230-254. [10.1097/gim.0b013e31820d5e67]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/402899
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