Reduction in newborn screening metabolic false-positive results following a new collection protocol

Genetics in Medicine

Volumn 16, Issue 6, 2014, Pages 477-483

  Morris, Mindy ^a   Fischer, Kristin ^a   Leydiker, Karen ^a   Elliott, Lisa ^a   Newby, Joan ^b   Abdenur, Jose E ^a  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b Brandman University Family Psychiatric and Mental Health   (United States)

Author keywords

FPR; NBS; NICU; tandem mass spectrometry; TPN

Indexed keywords

AMINO ACID; GLUCOSE;

ARTICLE; BIRTH WEIGHT; FALSE POSITIVE RESULT; FAMILY STRESS; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; NEWBORN; NEWBORN INTENSIVE CARE; NEWBORN SCREENING; TOTAL PARENTERAL NUTRITION; COHORT ANALYSIS; COST; ECONOMICS; LABORATORY DIAGNOSIS; PARENTERAL NUTRITION; PROCEDURES; RETROSPECTIVE STUDY;

BIRTH WEIGHT; COHORT STUDIES; COSTS AND COST ANALYSIS; FALSE POSITIVE REACTIONS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; PARENTERAL NUTRITION; RETROSPECTIVE STUDIES;

EID: 84902081558     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.171     Document Type: Article

References (28)

1. American Academy of Pediatrics, Newborn Screening Authoring Committee.Newborn screening expands:Recommendations for pediatricians and medicalhomes-implications for the system.Pediatrics,2008.121.2007-3021.
2. Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR. Newbornscreening: toward a uniform screening panel and system. Genet Med2006;8(suppl):1-252.
3. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuriain large populations of newborn infants. Pediatrics 1963;32:338-343.
4. American College of Medical Genetics/American Society of Human Genetics,Test & Technology Transfer Committee Working Group. Tandem massspectrometry in newborn screening. Genet Med 2000;2:267-269.
5. Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandemmass spectrometry era: more tests, more false-positive results. Pediatrics2006;118:448-456.
6. Zytkovicz TH, Fitzgerald EF, Marsden D, et al. Tandem mass spectrometricanalysis for amino, organic, and fatty acid disorders in newborn dried bloodspots: a two-year summary from the New England Newborn ScreeningProgram. Clin Chem 2001;47:1945-1955.
7. Zaffanello M, Zamboni G, Maffeis C, Tatò L. Neonatal birth parameters ofpositive newborns at PKU screening as predictors of false-positive and positiveresults at recall-testing. J Med Screen 2003;10:181-183.
8. Kaye CI, Accurso F, La Franchi S, et al.; Committee on Genetics.Introduction to the newborn screening fact sheets. Pediatrics2006;118: 1304-1312.
9. Slaughter JL, Meinzen-Derr J, Rose SR, et al. The effects of gestational ageand birth weight on false-positive newborn-screening rates. Pediatrics2010;126:910-916.
10. Newborn screening for preterm, low birth weight, and sick newborns; approvedguideline. CLSI document I/LA31-A. Clinical and Laboratory Standards Institute:Wayne, PA, 2009.
11. California Department of Public Health. California newborn screeningprogram overview. http://www.cdph.ca.gov/programs/nbs/Pages/ NBSProgrOVforProviders.aspx. Copyright 2010. Accessed 13 January 2013.
12. Feuchtbaum L, Lorey F, Faulkner L, et al. California's experience implementinga pilot newborn supplemental screening program using tandem massspectrometry. Pediatrics 2006;117:261-269.
13. Dusick AM, Poindexter BB, Ehrenkranz RA, Lemons JA. Growth failure in thepreterm infant: can we catch up? Semin Perinatol 2003;27:302-310.
14. Ehrenkranz RA, Dusick AM, Vohr BR, Wright LL, Wrage LA, Poole WK. Growthin the neonatal intensive care unit influences neurodevelopmental and growthoutcomes of extremely low birth weight infants. Pediatrics 2006;117:1253-1261.
15. Ziegler EE, O'Donnell AM, Nelson SE, Fomon SJ. Body composition of thereference fetus. Growth 1976;40:329-341.
16. Poindexter BB, Langer JC, Dusick AM, Ehrenkranz RA; National Institute of ChildHealth and Human Development Neonatal Research Network. Early provision ofparenteral amino acids in extremely low birth weight infants: relation to growthand neurodevelopmental outcome. J Pediatr 2006;148:300-305.
17. Valentine CJ, Fernandez S, Rogers LK, et al. Early amino-acid administrationimproves preterm infant weight. J Perinatol 2009;29:428-432.
18. Chace DH, De Jesús VR, Lim TH, Hannon WH, Spitzer AR. Tandem massspectrometric identification of dextrose markers in dried-blood spots frominfants receiving total parenteral nutrition. Clin Chim Acta 2010;411:1806-1816.
19. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF.Expanded newborn screening for inborn errors of metabolism by electrosprayionization-tandem mass spectrometry: results, outcome, and implications.Pediatrics 2003;111(6 Pt 1):1399-1406.
20. Zaffanello M, Maffeis C, Zamboni G. Multiple positive results during a neonatalscreening program: a retrospective analysis of incidence, clinical implicationsand outcomes. J Perinat Med 2005;33:246-251.
21. Beath SV. Hepatic function and physiology in the newborn. Semin Neonatol2003;8:337-346.
22. Balk KG. Recommended newborn screening policy change for the NICU infant.Policy Polit Nurs Pract 2007;8:210-219.
23. McHugh D, Cameron CA, Abdenur JE, et al. Clinical validation of cutofftarget ranges in newborn screening of metabolic disorders by tandem massspectrometry: a worldwide collaborative project. Genet Med 2011;13:230-254.
24. Region 4 Genetics Collaborative Project. http://www.clir-r4s.org Accessed 7November 2011.
25. Marquardt G, Currier R, McHugh DM, et al. Enhanced interpretation ofnewborn screening results without analyte cutoff values. Genet Med2012;14:648-655.
26. Schoen EJ, Baker JC, Colby CJ, To TT. Cost-benefit analysis of universal tandemmass spectrometry for newborn screening. Pediatrics 2002;110:781-786.
27. Prosser LA, Kong CY, Rusinak D, Waisbren SL. Projected costs, risks, and benefitsof expanded newborn screening for MCADD. Pediatrics 2010;125:e286-e294.
28. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screeningfor biochemical disorders: the effect of a false-positive result. Pediatrics2006;117:1915-1921.