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  1. Article ; Online: Efficient linking of birth certificate and newborn screening databases for laboratory investigation of congenital cytomegalovirus infection and preterm birth: Florida, 2008.

    DePasquale, John M / Freeman, Karen / Amin, Minal M / Park, Sohyun / Rivers, Samantha / Hopkins, Richard / Cannon, Michael J / Dy, Bonifacio / Dollard, Sheila C

    Maternal and child health journal

    2011  Volume 16, Issue 2, Page(s) 486–494

    Abstract: The objectives of this study are (1) to design an accurate method for linking newborn screening (NBS) and state birth certificate databases to create a de-identified study database; (2) To assess maternal cytomegalovirus (CMV) seroprevalence by measuring ...

    Abstract The objectives of this study are (1) to design an accurate method for linking newborn screening (NBS) and state birth certificate databases to create a de-identified study database; (2) To assess maternal cytomegalovirus (CMV) seroprevalence by measuring CMV IgG in newborn dried blood spots; (3) To assess congenital CMV infection among newborns and possible association with preterm birth. NBS and birth databases were linked and patient records were de-identified. A stratified random sample of records based on gestational age was selected and used to retrieve blood spots from the state NBS laboratory. Serum containing maternal antibodies was eluted from blood spots and tested for the presence of CMV IgG. DNA was extracted from blood spots and tested for the presence of CMV DNA. Analyses were performed with bivariable and multivariable logistic regression models. Linkage rates and specimen collection exceeded 98% of the total possible yielding a final database with 3,101 newborn blood spots. CMV seroprevalence was 91% among Black mothers, 83% among Hispanic mothers, 59% among White mothers, and decreased with increasing amounts of education. The prevalence of CMV infection in newborns was 0.45% and did not vary significantly by gestational age. Successful methods for database linkage, newborn blood spots collection, and de-identification of records can serve as a model for future congenital exposure surveillance projects. Maternal CMV seroprevalence was strongly associated with race/ethnicity and educational level. Congenital CMV infection rates were lower than those reported by other studies and lacked statistical power to examine associations with preterm birth.
    MeSH term(s) Adult ; Birth Certificates ; Cytomegalovirus/genetics ; Cytomegalovirus/isolation & purification ; Cytomegalovirus Infections/congenital ; Cytomegalovirus Infections/diagnosis ; Cytomegalovirus Infections/epidemiology ; Cytomegalovirus Infections/virology ; DNA, Viral/blood ; Databases as Topic ; Female ; Florida/epidemiology ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature ; Medical Record Linkage ; Neonatal Screening ; Polymerase Chain Reaction ; Pregnancy ; Pregnancy Complications, Infectious/epidemiology ; Pregnancy Complications, Infectious/virology ; Premature Birth ; Prevalence ; Risk Factors ; Seroepidemiologic Studies
    Chemical Substances DNA, Viral
    Language English
    Publishing date 2011-01-04
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1339905-6
    ISSN 1573-6628 ; 1092-7875
    ISSN (online) 1573-6628
    ISSN 1092-7875
    DOI 10.1007/s10995-010-0740-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Enhanced interpretation of newborn screening results without analyte cutoff values.

    Marquardt, Gregg / Currier, Robert / McHugh, David M S / Gavrilov, Dimitar / Magera, Mark J / Matern, Dietrich / Oglesbee, Devin / Raymond, Kimiyo / Rinaldo, Piero / Smith, Emily H / Tortorelli, Silvia / Turgeon, Coleman T / Lorey, Fred / Wilcken, Bridget / Wiley, Veronica / Greed, Lawrence C / Lewis, Barry / Boemer, François / Schoos, Roland /
    Marie, Sandrine / Vincent, Marie-Françoise / Sica, Yuri Cleverthon / Domingos, Mouseline Torquado / Al-Thihli, Khalid / Sinclair, Graham / Al-Dirbashi, Osama Y / Chakraborty, Pranesh / Dymerski, Mark / Porter, Cory / Manning, Adrienne / Seashore, Margretta R / Quesada, Jonessy / Reuben, Alejandra / Chrastina, Petr / Hornik, Petr / Atef Mandour, Iman / Atty Sharaf, Sahar Abdel / Bodamer, Olaf / Dy, Bonifacio / Torres, Jasmin / Zori, Roberto / Cheillan, David / Vianey-Saban, Christine / Ludvigson, David / Stembridge, Adrya / Bonham, Jim / Downing, Melanie / Dotsikas, Yannis / Loukas, Yannis L / Papakonstantinou, Vagelis / Zacharioudakis, Georgios S A / Baráth, Ákos / Karg, Eszter / Franzson, Leifur / Jonsson, Jon J / Breen, Nancy N / Lesko, Barbara G / Berberich, Stanton L / Turner, Kimberley / Ruoppolo, Margherita / Scolamiero, Emanuela / Antonozzi, Italo / Carducci, Claudia / Caruso, Ubaldo / Cassanello, Michela / la Marca, Giancarlo / Pasquini, Elisabetta / Di Gangi, Iole Maria / Giordano, Giuseppe / Camilot, Marta / Teofoli, Francesca / Manos, Shawn M / Peterson, Colleen K / Mayfield Gibson, Stephanie K / Sevier, Darrin W / Lee, Soo-Youn / Park, Hyung-Doo / Khneisser, Issam / Browning, Phaidra / Gulamali-Majid, Fizza / Watson, Michael S / Eaton, Roger B / Sahai, Inderneel / Ruiz, Consuelo / Torres, Rosario / Seeterlin, Mary A / Stanley, Eleanor L / Hietala, Amy / McCann, Mark / Campbell, Carlene / Hopkins, Patrick V / de Sain-Van der Velden, Monique G / Elvers, Bert / Morrissey, Mark A / Sunny, Sherlykutty / Knoll, Detlef / Webster, Dianne / Frazier, Dianne M / McClure, Julie D / Sesser, David E / Willis, Sharon A / Rocha, Hugo / Vilarinho, Laura / John, Catharine / Lim, James / Caldwell, S Graham / Tomashitis, Kathy / Castiñeiras Ramos, Daisy E / Cocho de Juan, Jose Angel / Rueda Fernández, Inmaculada / Yahyaoui Macías, Raquel / Egea-Mellado, José María / González-Gallego, Inmaculada / Delgado Pecellin, Carmen / García-Valdecasas Bermejo, Maria Sierra / Chien, Yin-Hsiu / Hwu, Wuh-Liang / Childs, Thomas / McKeever, Christine D / Tanyalcin, Tijen / Abdulrahman, Mahera / Queijo, Cecilia / Lemes, Aída / Davis, Tim / Hoffman, William / Baker, Mei / Hoffman, Gary L

    Genetics in medicine : official journal of the American College of Medical Genetics

    2012  Volume 14, Issue 7, Page(s) 648–655

    Abstract: Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries.: Methods: A database of 767,464 results from 12,721 cases affected with 60 ... ...

    Abstract Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries.
    Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors.
    Results: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events.
    Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%.
    MeSH term(s) Computational Biology ; Data Interpretation, Statistical ; Databases, Factual ; Diagnosis, Differential ; False Positive Reactions ; Humans ; Infant, Newborn ; International Cooperation ; Metabolome ; Minnesota ; Multivariate Analysis ; Neonatal Screening/methods ; Pattern Recognition, Automated ; Predictive Value of Tests ; Retrospective Studies ; Software ; Tandem Mass Spectrometry/methods
    Language English
    Publishing date 2012-02-16
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2012.2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: 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 / 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

    Genetics in medicine : official journal of the American College of Medical Genetics

    2011  Volume 13, Issue 3, Page(s) 230–254

    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 ... ...

    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.
    MeSH term(s) Amino Acids/blood ; Carnitine/analogs & derivatives ; Carnitine/blood ; Humans ; Infant, Newborn ; International Cooperation ; Metabolic Diseases/diagnosis ; Neonatal Screening ; Reference Values ; Sensitivity and Specificity ; Software ; Tandem Mass Spectrometry
    Chemical Substances Amino Acids ; acylcarnitine ; Carnitine (S7UI8SM58A)
    Language English
    Publishing date 2011-02-08
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. ; Validation Study
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1097/GIM.0b013e31820d5e67
    Database MEDical Literature Analysis and Retrieval System OnLINE

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