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New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, 305 South St., Jamaica Plain, MA 02130.
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Children’s Hospital, 300 Longwood Ave., Boston, MA 02115.
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Amino Acid Laboratory, Massachusetts General Hospital, Boston, MA 02129.
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Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37205.
aAuthor for correspondence. Fax 617-522-2846;
Background: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots for >20 markers of disease in a single assay. Limited information is available for setting the marker cutoffs and for the resulting positive predictive values.
Methods: We screened >160 000 newborns by MS/MS. The markers were extracted from blood spots into a methanol solution with deuterium-labeled internal standards and then were derivatized before analysis by MS/MS. Multiple reaction monitoring of each sample for the markers of interest was accomplished in 
1.9 min. Cutoffs for each marker were set at 6–13 SD above the population mean.
Results: We identified 22 babies with amino acid disorders (7 phenylketonuria, 11 hyperphenylalaninemia, 1 maple syrup urine disease, 1 hypermethioninemia, 1 arginosuccinate lyase deficiency, and 1 argininemia) and 20 infants with fatty and organic acid disorders (10 medium-chain acyl-CoA dehydrogenase deficiencies, 5 presumptive short-chain acyl-CoA dehydrogenase deficiencies, 2 propionic acidemias, 1 carnitine palmitoyltransferase II deficiency, 1 methylcrotonyl-CoA carboxylase deficiency, and 1 presumptive very-long chain acyl-CoA dehydrogenase deficiency). Approximately 0.3% of all newborns screened were flagged for either amino acid or acylcarnitine markers; approximately one-half of all the flagged infants were from the 5% of newborns who required neonatal intensive care or had birth weights <1500 g.
Conclusions: In screening for 23 metabolic disorders by MS/MS, an mean positive predictive value of 8% can be achieved when using cutoffs for individual markers determined empirically on newborns.
The following articles in journals at HighWire Press have cited this article:
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  H.-W. Hsu, T. H. Zytkovicz, A. M. Comeau, A. W. Strauss, D. Marsden, V. E. Shih, G. F. Grady, and R. B. Eaton Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening Pediatrics, May 1, 2008; 121(5): e1108 - e1114. [Abstract] [Full Text] [PDF]
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K. A. Strnadova, M. Holub, A. Muhl, G. Heinze, R. Ratschmann, H. Mascher, S. Stockler-Ipsiroglu, F. Waldhauser, F. Votava, J. Lebl, et al. Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots Clin. Chem., April 1, 2007; 53(4): 717 - 722. [Abstract] [Full Text] [PDF]
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M. Liebig, I. Schymik, M. Mueller, U. Wendel, E. Mayatepek, J. Ruiter, A. W. Strauss, R. J.A. Wanders, and U. Spiekerkoetter Neonatal Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: Enzymatic and Molecular Evaluation of Neonates With Elevated C14:1-Carnitine Levels Pediatrics, September 1, 2006; 118(3): 1065 - 1069. [Abstract] [Full Text] [PDF]
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S. E. Waisbren Newborn screening for metabolic disorders. JAMA, August 23, 2006; 296(8): 993 - 995. [Full Text] [PDF]
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B. A. Tarini, D. A. Christakis, and H. G. Welch State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False-Positive Results Pediatrics, August 1, 2006; 118(2): 448 - 456. [Abstract] [Full Text] [PDF]
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L. Feuchtbaum, F. Lorey, L. Faulkner, J. Sherwin, R. Currier, A. Bhandal, and G. Cunningham California's Experience Implementing a Pilot Newborn Supplemental Screening Program Using Tandem Mass Spectrometry Pediatrics, May 1, 2006; 117(5/S1): S261 - S269. [Abstract] [Full Text] [PDF]
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K. Skogstrand, P. Thorsen, B. Norgaard-Pedersen, D. E. Schendel, L. C. Sorensen, and D. M. Hougaard Simultaneous Measurement of 25 Inflammatory Markers and Neurotrophins in Neonatal Dried Blood Spots by Immunoassay with xMAP Technology Clin. Chem., October 1, 2005; 51(10): 1854 - 1866. [Abstract] [Full Text] [PDF]
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D. S. Millington Newborn Screening for Lysosomal Storage Disorders Clin. Chem., May 1, 2005; 51(5): 808 - 809. [Full Text] [PDF]
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O. Y. Al-Dirbashi, M. Jacob, Z. Al-Hassnan, F. El-Badaoui, and M. S. Rashed Diagnosis of Methylmalonic Acidemia from Dried Blood Spots by HPLC and Intramolecular-Excimer Fluorescence Derivatization Clin. Chem., January 1, 2005; 51(1): 235 - 237. [Full Text] [PDF]
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R. Rej Clinical Chemistry through Clinical Chemistry: A Journal Timeline Clin. Chem., December 1, 2004; 50(12): 2415 - 2458. [Abstract] [Full Text] [PDF]
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H. Refsum, A. W. Grindflek, P. M. Ueland, A. Fredriksen, K. Meyer, A. Ulvik, A. B. Guttormsen, O. E. Iversen, J. Schneede, and B. F. Kase Screening for Serum Total Homocysteine in Newborn Children Clin. Chem., October 1, 2004; 50(10): 1769 - 1784. [Abstract] [Full Text] [PDF]
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R. W. Miller How Environmental Hazards in Childhood Have Been Discovered: Carcinogens, Teratogens, Neurotoxicants, and Others Pediatrics, April 1, 2004; 113(4/S1): 945 - 951. [Abstract] [Full Text] [PDF]
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D. Marsden and C. A. Larson Emerging Role for Tandem Mass Spectrometry in Detecting Congenital Adrenal Hyperplasia Clin. Chem., March 1, 2004; 50(3): 467 - 468. [Full Text] [PDF]
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N. A. Holtzman Expanded Screening of Newborns for Genetic Disorders--Reply JAMA, February 18, 2004; 291(7): 821 - 821. [Full Text] [PDF]
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S. E. Waisbren and H. L. Levy Expanded Screening of Newborns for Genetic Disorders JAMA, February 18, 2004; 291(7): 820 - 821. [Full Text] [PDF]
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S. E. Waisbren, S. Albers, S. Amato, M. Ampola, T. G. Brewster, L. Demmer, R. B. Eaton, R. Greenstein, M. Korson, C. Larson, et al. Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress JAMA, November 19, 2003; 290(19): 2564 - 2572. [Abstract] [Full Text] [PDF]
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D. H. Chace, T. A. Kalas, and E. W. Naylor Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns Clin. Chem., November 1, 2003; 49(11): 1797 - 1817. [Abstract] [Full Text] [PDF]
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 B. Wilcken, V. Wiley, J. Hammond, and K. Carpenter Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry N. Engl. J. Med., June 5, 2003; 348(23): 2304 - 2312. [Abstract] [Full Text] [PDF]
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A. Schulze, M. Lindner, D. Kohlmuller, K. Olgemoller, E. Mayatepek, and G. F. Hoffmann Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications Pediatrics, June 1, 2003; 111(6): 1399 - 1406. [Abstract] [Full Text] [PDF]
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 M. Shevell, S. Ashwal, D. Donley, J. Flint, M. Gingold, D. Hirtz, A. Majnemer, M. Noetzel, and R.D. Sheth Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society Neurology, February 11, 2003; 60(3): 367 - 380. [Abstract] [Full Text] [PDF]
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D. A. Klose, S. Kolker, B. Heinrich, V. Prietsch, E. Mayatepek, R. von Kries, and G. F. Hoffmann Incidence and Short-Term Outcome of Children With Symptomatic Presentation of Organic Acid and Fatty Acid Oxidation Disorders in Germany Pediatrics, December 1, 2002; 110(6): 1204 - 1211. [Abstract] [Full Text] [PDF]
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 D A C Elliman, C Dezateux, and H E Bedford Newborn and childhood screening programmes: criteria, evidence, and current policy Arch. Dis. Child., July 1, 2002; 87(1): 6 - 9. [Full Text] [PDF]
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L. Sweetman Newborn Screening by Tandem Mass Spectrometry: Gaining Experience Clin. Chem., November 1, 2001; 47(11): 1937 - 1938. [Full Text] [PDF]
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