The Journal of Pediatrics
Volume 148, Issue 5 , Pages 577-584.e5 , May 2006

Newborn screening for metabolic disorders

  • Deborah Marsden, MBBS

      Affiliations

    • Division of Genetics, Children’s Hospital Boston
    • Department of Pediatrics, Harvard Medical School, Boston
    • New England Newborn Screening Program and the University of Massachusetts Medical School, Worcester
    • Corresponding Author InformationReprint requests: Dr Deborah Marsden, Children’s Hospital Boston, 300 Longwood Avenue, Fegan 10, Boston, MA 02115
    • ,
  • Cecilia Larson, MD

      Affiliations

    • Division of Genetics, Children’s Hospital Boston
    • Department of Pediatrics, Harvard Medical School, Boston
    • New England Newborn Screening Program and the University of Massachusetts Medical School, Worcester
    • ,
  • Harvey L. Levy, MD

      Affiliations

    • Division of Genetics, Children’s Hospital Boston
    • Department of Pediatrics, Harvard Medical School, Boston
    • New England Newborn Screening Program and the University of Massachusetts Medical School, Worcester

Received 22 July 2005 ,Revised 3 November 2005 ,Accepted 12 December 2005.

References 

  1. Guthrie R . The origin of newborn screening . Screening . 1992;1:5–15
  2. Koch J . Robert Guthrie (The PKU Story) . Pasadena, Calif: Hope Publishing House; 1997;
  3. Guthrie R , Susi A . A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants . Pediatrics . 1963;32:338–343
  4. Fearing MK , Levy HL . Expanded newborn screening using tandem mass spectrometry . Adv Pediatr . 2003;50:81–111
  5. Guthrie R . Screening for “inborn errors of metabolism” in the newborn infant (a multiple test program) . Birth Def Orig Art Ser . 1968;4:92–96
  6. Beutler E , Baluda MC . A single spot screening test for galactosemia . J Lab Clin Med . 1966;68:137–141
  7. Dussault JH , Coulombe P , Laberge C , Letarte J , Guyda H , Khoury K . Preliminary report on a mass screening program for neonatal hypothyroidism . J Pediatr . 1975;86:670–674
  8. Garrick MD , Dembure P , Guthrie R . Sickle-cell anemia and other hemglobinopathies (procedures and strategy for screening employing spots of blood on filter paper as specimens) . N Engl J Med . 1973;288:1265–1268
  9. Pang S , Hotchkiss J , Drash AL , Levine LS , New MI . Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay (its application for rapid screening for congenital adrenal hyperplasia) . J Clin Endocrinol Metab . 1977;45:1003–1008
  10. Qu Y , Miller JB , Slocum RH , Shapira E . Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens . Clin Chim Acta . 1991;203:191–198
  11. Levy HL , Albers S . Genetic screening of newborns . Annu Rev Genomics Hum Genet . 2000;1:139–177
  12. Levy HL . Newborn screening by tandem mass spectrometry (a new era) . Clin Chem . 1998;44:2401–2402
  13. Chace DH , Kalas TA . A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing . Clin Biochem . 2005;38:296–309
  14. Newborn Screening Task Force . Serving the family from birth to the medical home . Pediatrics . 2000;106:383–427
  15. Levy HL. Historical perspectives: newborns metabolic screening. Neoreviews 2005; 6:e57-60. Available online at: www.NeoReviews.org
  16. Andrews LB . State laws and regulations governing newborn screening . Chicago: American Bar Foundation; 1985;
  17. Schulze A , Lindner M , Kohlmüller D , Olgemöller K , Mayatepek E , Hoffmann GF . Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry (results, outcome, and implications) . Pediatrics . 2003;111:1399–1406
  18. Chace DH , Kalas TA , Naylor EW . The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism . Annu Rev Genomics Hum Genet . 2002;3:17–45
  19. Holtzman C , Slazyk WE , Cordero JF , Hannon WH . Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism . Pediatrics . 1986;78:553–558
  20. Atkinson K , Zuckerman B , Sharfstein JM , Levin D , Blatt RJR , Koh HK . A public health response to emerging technology (expansion of the Massachusetts newborn screening program) . Pub Health Rep . 2000;116:112–131
  21. Comeau AM , Larson C , Eaton R . Integration of new genetic diseases into statewide newborn screening (New England experience) . Am J Med Genet Part C (Semin Med Genet) . 2004;125C:35–41
  22. Millington DS , Kodo N , Norwood DL , Roe CR . Tandem mass spectrometry (a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism) . J Inherit Metab Dis . 1990;13:321–324
  23. Andresen BS , Dobrowolski SF , O’Reilly L , Muenzer J , McCandless SE , Frazier DM , et al.   Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms (identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency) . Am J Hum Genet . 2001;68:1408–1418
  24. National Newborn Screening and Genetic Resource Center, Austin, TX. Available online at: www.genes-r-us.org. Accessed December 12, 2005
  25. Available online at: http://mchb.hrsa.gov/screening/
  26. New England Consortium of Metabolic Programs. www.childrenshospital.org/newenglandconsortium
  27. Zytkovicz TH , Fitzgerald EF , Marsden D , Larson CA , Shih VE , Johnson DM , et al.   Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots (a two-year summary from the New England newborn screening program) . Clin Chem . 2001;47:11; 1945-55
  28. Wilcken B , Wiley V , Hammond J , Carpenter K . Screening newborns for inborn errors of metabolism by tandem mass spectrometry . N Engl J Med . 2003;348:2304–2312
  29. Waisbren SE , Albers S , Amato S , Ampola M , Brewster TG , Demmer L , et al.   Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress . JAMA . 2003;290:2564–2572
  30. Ziadeh R , Hoffman EP , Finegold DN , Hoop RC , Brackett JC , Strauss AW , et al.   Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania (neonatal screening shows high incidence and unexpected mutation frequencies) . Pediatr Res . 1995;37:675–678
  31. Cederbaum DS . SIDS and disorders of fatty acid oxidation (where do we go from here?) . J Pediatr . 1998;132:913–914
  32. Wang SS , Fernhoff PM , Khoury MJ . Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? . A pooled analysis. Pediatrics . 2000;105:1175–1176
  33. Pollitt RJ , Leonard JV . Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK . Arch Dis Child . 1998;79:116–119
  34. Carpenter K , Wiley V , Sim KG , Heath D , Wilcken B . Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275,000 babies . Arch Dis Child Fetal Neonatal Ed . 2001;85:F0–F4
  35. Chace DH , DiPerna JC , Mitchell BL , Sgroi B , Hofman LF , Naylor EW . Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death . Clin Chem . 2001;47:1166–1182
  36. Spiekerkoetter U , Sun B , Zytkovicz T , Wanders R , Strauss AW , Wendel U . MS/MS-Based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency . J Pediatr . 2003;143:335–342
  37. Ensenauer R , Vockley J , Willard J-M , Huey JC , Sass JO , Edland SD , et al.   A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening . Am J Hum Genet . 2004;75:1136–1142
  38. Rhead WJ , White A , Allain D , Lindh H , Hanson K , van Calcar S , et al.   Very-long-chain acyl-CoA dehydrogenase (VLCAD), 2-methylbutyryl-AD (2-MBAD), short chain-AD (SCAD), and 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiencies (newborn screening detects clinically benign or very mild cases) . Molec Genet Metab . 2004;81:153–186
  39. Losty H , Melville-Thomas G , Pollitt R , Davies S . Medium chain acyl CoA deficiency sudden, unexpected death in a 23 year old woman . J Inherit Metab Dis . 2001;24(suppl 1):68
  40. Feillet F , Bollaert PE , deChillou C , Lefebvre E , Vianey-Saban C , Vidailhet M . First adult presentation of MCAD deficiency revealed by coma and sever arythmia . J Inherit Metab Dis . 2002;25(suppl 1):68
  41. Liebl B , Nennstiel-Ratzel U , Roscher A , von Kries R . Data required for the evaluation of newborn screening programmes . Eur J Pediatr . 2003;162:S57–S61
  42. Dezateux C . Newborn screening for medium chain acyl-CoA dehydrogenase deficiency (evaluating the effects on outcome) . Eur J Pediatr . 2003;162:S25–S28
  43. Abdenur JE , Chamoles NA , Guinle AE , Schenone AB , Fuertes ANJ . Diagnosis of isovaleric acidaemia by tandem mass spectrometry (false positive result due to pivaloylcarnitine in a newborn screening programme) . J Inherit Metab Dis . 1998;21: 646–30
  44. Gibson KM , Bennett MJ , Naylor EW , Morton DH . 3-methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children . J Pediatr . 1998;132:519–523
  45. Koeberl DD , Millington DS , Smith WE , et al.   Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening . J Inherit Metab Dis . 2003;26:25–35
  46. Wagstaff J , Korson M , Kraus JP , Levy HL . Severe folate deficiency and pancytopenia in a nutritionally deprived infant with Homocystinuria caused by cystathionine beta-synthase deficiency . J Pediatr . 1991;118:569–572
  47. Smith WE , Millington DE , Koeberl DK , Lesser PS . Glutaric aciduria Type I missed by newborn screening in an infant with dystonia following promethazine administration . Pediatrics . 2001;107:1184–1187
  48. Fearing MF , Larson C , Strauss A , Marsden DL . Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty oxidation defects . J Inherit Metab Dis . 2005;28:545–550
  49. Holtzman C , Slazyk WE , Cordero JF , Hannon WH . Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism . Pediatrics . 1986;78:553–558
  50. Mudd SH , Levy HL , Tangerman A , Boujet C , Buist N , Davidson-Mundt A , et al.   Isolated persistent hypermethioninemia . Am J Hum Genet . 1995;57:882–892
  51. Cuthbert CD , Magera MJ , Hahn S , Tortorelli S , Rinaldo P , Matern D . Analysis of homocysteine and methylmalonic acid in blood spots by tandem mass spectrometry as a second tier newborn screening test for homocystinuria and methylmalonic acidemias . J Inherit Metab Dis . 2005;28(suppl. 1):8
  52. Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, et al. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I . Molec Genet Metab . 2006; in press
  53. Allard P , Grenier A , Korson MS , Zytkovicz TH . Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry (analysis of succinylacetone extracted from dried blood spots) . Clin Biochem . 2004;37:1010–1015
  54. Lacey JM , Minutti CZ , Magena MJ , Tauscher AL , Casetta B , McCann M , et al.   Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry . Clin Chem . 2004;50:621–625
  55. Chace DH , Hillman SL , Millington DS , Kahler SG , Roe CR , Naylor EW . Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry . Clin Chem . 1995;41:62–68
  56. Rinaldo P , Tortorelli S , Hahn SH , Matern D . An objective score card for reporting performance metrics of newborn screening by MS/MS (Abstract) . 2005; Presented at 7th National Newborn Screening Meeting; October 26-29, Portland, Oregon
  57. Green NS , Pass KA . Neonatal screening by DNA microarray (spots and chips) . Nat Rev Genet . 2005;6:147–151
  58. Comeau AM , Parad RB , Dorkin HL , Dovey M , Gerstle R , Haver K , et al.   Population-based newborn screening for genetic disorders when multiple DNA testing is incorporated (a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections) . Pediatrics . 2004;113:1573–1581
  59. Bhardwaj U , Zhang Y-H , Jackson DS , Buchanan GR , Therrell BL , McCabe LL , et al.   DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up . J Pediatr . 2003;142:346–348
  60. Dobrowolski SF , Baras RA , Suzow JG , Berkley M , Naylor EW . Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene . J Mol Diagn . 2003;5:42–47
  61. Naylor EW , Chace DH , DiPerna JC , Kalas TA , Banas RA , Lin Z , et al.   Newborn and high risk screening for Glutaric aciduria type I (results of primary tandem mass spectrometry and 2nd-tier molecular testing in over 1.8 million specimens) . Molec Genet Metab . 2004;81:176
  62. Greenberg CR , Prasad AN , Dilling LA , Thompson JRG , Haworth JC , Martin B , et al.   Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type I in Manitoba and northwestern Ontario, Canada . Molec Genet Metab . 2002;75:70–78
  63. Lin Z , Fontaine JM , Freer DE , Naylor EW . Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency . Molec Genet Metab . 2005;86:212–219
  64. Thomason MJ , Lord J , Bain MD , Chalmers RA , Littlejohns P , Addison GM , et al.   A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism . J Pub Hlth Med . 1998;20:331–343
  65. Venditti LN , Venditti CP , Berry GT , Kaplan PB , Kaye EM , Glick H , et al.   Newborn screening by tandem mass spectrometry for medium-chain acyl-CoA dehydrogenase deficiency (a cost-effectiveness analysis) . Pediatrics . 2003;112:1005–1015
  66. Pandor A , Eastham J , Beverely C , Chilcott J , Paisley S . Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry (a systematic review) . Hlth Technol Assess . 2004;8:1–121
  67. Schoen EJ , Baker JC , Colby CJ , To TT . Cost-benefit analysis of universal mass spectrometry for newborn screening . Pediatrics . 2002;110:781–786
  68. Filiano JJ , Bellimer SG , Kunz PL . Tandem mass spectrometry and newborn screening (pilot data and review) . Pediatr Neurol . 2002;26:201–204
  69. Grosse SD . Does newborn screening save money? . The difference between cost-effective and cost-saving interventions. J Pediatr . 2005;146:168–170
  70. Li Y , Scott CR , Chamoles NA , Ghavami A , Pinto BM , Turecek F , et al.   Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening . Clin Chem . 2004;50:1785–1796
  71. Erbe RW, Levy HL. Neonatal screening. In: Rimoin DL, Conner JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin’s Principles of Medical Genetics. 5th ed. Edinburgh: Churchill Livingstone; in press.

 Supported by grants HG02085 from the NIH/GRI and U22MC03959 from HRSA/MCHB.

PII: S0022-3476(05)01182-0

doi: 10.1016/j.jpeds.2005.12.021

The Journal of Pediatrics
Volume 148, Issue 5 , Pages 577-584.e5 , May 2006

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