HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Web of Science (65) Citing Articles via Google Scholar Google Scholar Articles by Levy, H. L. Search for Related Content PubMed PubMed Citation Articles by Levy, H. L. Related Collections Molecular Diagnostics and Genetics

Newborn Screening by Tandem Mass Spectrometry: A New Era

Children's Hospital, 300 Longwood Avenue, IC-106, Boston, MA 02115, Fax 617-730-0461

Soon after Guthrie (1) expanded newborn screening by adding galactosemia, maple syrup urine disease (MSUD), and homocystinuria to the original screening for phenylketonuria (PKU), he realized that screening would be more efficient and comprehensive if a single assay could be used to detect several disorders rather than the system of a separate bacterial assay for each disorder that he had developed. He tried many ways to make such a single assay–using multiple inhibitors and different strains of bacteria–but nothing worked, so he abandoned the idea. Others had the same idea but used chromatography rather than bacterial assays (2)(3). Unfortunately, paper chromatography was insufficiently sensitive for screening newborn blood within the first days of life when the specimen is collected. To compensate for this shortcoming and to further expand the coverage of disorders, paper or thin-layer chromatography has been used for screening newborn urine (4). But here again, chromatography has had substantial disadvantages. First, an additional specimen is required because urine cannot replace blood in detecting either PKU or congenital hypothyroidism, the two indispensable disorders in screening. Second, the urine specimen must be collected by a parent or physician after nursery discharge, introducing a logistical problem. Third, urine varies widely in concentration, producing many false-positive results in the more highly concentrated specimens. This leads to otherwise unnecessary, anxiety-provoking requests for repeat specimens. Conversely, false-negative findings may result from dilute specimens. Finally, many of the disorders identified in urine, such as histidinemia, iminoglycinuria, and Hartnup disorder, are benign (4). Consequently, newborn urine screening based on chromatography has been discontinued in two of the three places in which was introduced, Australia (5) and Massachusetts, remaining only in Quebec (6). Thus, screening programs . . . [Full Text of this Article]

References

The following articles in journals at HighWire Press have cited this article:

				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]

				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]

				L. N. Venditti, C. P. Venditti, G. T. Berry, P. B. Kaplan, E. M. Kaye, H. Glick, and C. A. Stanley Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis Pediatrics, November 1, 2003; 112(5): 1005 - 1015. [Abstract] [Full Text] [PDF]

				L. Sweetman Newborn Screening by Tandem Mass Spectrometry: Gaining Experience Clin. Chem., November 1, 2001; 47(11): 1937 - 1938. [Full Text] [PDF]

				P. M. Jones, M. Moffitt, D. Joseph, P. A. Harthcock, R. L. Boriack, J. A. Ibdah, A. W. Strauss, and M. J. Bennett Accumulation of Free 3-Hydroxy Fatty Acids in the Culture Media of Fibroblasts from Patients Deficient in Long-Chain L-3-Hydroxyacyl-CoA Dehydrogenase: A Useful Diagnostic Aid Clin. Chem., July 1, 2001; 47(7): 1190 - 1194. [Abstract] [Full Text] [PDF]

				Committee on Bioethics Ethical Issues With Genetic Testing in Pediatrics Pediatrics, June 1, 2001; 107(6): 1451 - 1455. [Abstract] [Full Text] [PDF]

				S. Albers, D. Marsden, E. Quackenbush, A. R. Stark, H. L. Levy, and M. Irons Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry Pediatrics, June 1, 2001; 107 (6): e103 - e103. [Abstract] [Full Text] [PDF]

				Serving the Family From Birth to the Medical Home. Newborn Screening: A Blueprint for the Future - A Call for a National Agenda on State Newborn Screening Programs Pediatrics, August 1, 2000; 106(2): 389 - 422. [Full Text]

				T. Ito, A. B.P. van Kuilenburg, A. H. Bootsma, A. J. Haasnoot, A. van Cruchten, Y. Wada, and A. H. van Gennip Rapid Screening of High-Risk Patients for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry of Liquid Urine or Urine-soaked Filter Paper Strips Clin. Chem., April 1, 2000; 46(4): 445 - 452. [Abstract] [Full Text] [PDF]

				E. W. Naylor and D. H. Chace Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism J Child Neurol, November 1, 1999; 14(1_suppl): S4 - S8. [Abstract] [PDF]

				M. J. Magera, J. M. Lacey, B. Casetta, and P. Rinaldo Method for the Determination of Total Homocysteine in Plasma and Urine by Stable Isotope Dilution and Electrospray Tandem Mass Spectrometry Clin. Chem., September 1, 1999; 45(9): 1517 - 1522. [Abstract] [Full Text] [PDF]