Newborn screening tandem mass spectrometry

Chance DH, Adam BW, Smith SJ, Alexander JR, Hillman SL, Hannon WH (1999) Validation of accuracy-based amino acid reference materials in dried-blood spots by tandem mass spectrometry for newborn screening assays. Clin Chem 45 1269-1277. 

Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bah D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003 Aug 54(2) 219-23. Epub 2003 May 7. PubMed citation... 

Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization - tandem mass spectrometry results, outcome, and implications. Pediatrics 111 1399-1406... 

Matern D, Strauss AW, Hillman SL, Mayatepek E, Millington DS, Trefz FK (1999) Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. Pediatr Res 46 45-49... 

Koeberl DD, Young SP, Gregersen NS, et al (2003) Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res 54 219-223... 

Matern D, He M, Berry SA, et al (2003) Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics 112 74-78... 

Abdenur JE, Chamoles NA, Guinle AE, Schenone AB, Fuertes AN (1998) Diagnosis of isovaleric acidaemia by tandem mass spectrometry false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis 21 624-630... 

Malvagia S, la Marca G, Casetta B, et al (2006) Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. J Mass Spectrom 41 263-265... 

Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D (2004) Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 50 621-625... 

Last, but not least, there is always the need for interpretation of results and assessment of outcomes, particularly now that tandem mass spectrometry is increasingly embedded in newborn screening. This laboratory guide serves the expertise upon which interpretation depends. Accordingly, the correct use of a laboratory guide is certain to be multidisciplinary, and at the end of the inquiry and analysis, one will know better why this person has this disease, now. 

Chace DH, Kalas TA, Naylor EW. Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns. Clin Chem 2003 49 1797-817. 

Fearing MK, Levy HL. Expanded newborn screening using tandem mass spectrometry. Adv Pediatr 2003 50 81-111. 

Sweetman L. Newborn screening by tandem mass spectrometry (MSBMS). Clin Chem 1996 42 345-6. 

Charrow J, Goodman SI, McCabe ERG, Rinaldo P. Tandem mass spectrometry in newborn screening. Genet in Med 2000 2 267-9. 

Frazier, D.M. et al., The tandem mass spectrometry newborn screening experience in North Carolina 1997-2005, J. Inherit. Metab. Dis., 29(1), 76, 2006. 

Sometimes a test for more than one protein is needed and mass spectrometry is the method of choice for that purpose. A good example for this would be the use of tandem mass spectrometry to screen neonates for metabolic disorders such as amino acidemias (e.g., phenylketonuria—PKU), organic acidemias (e.g., propionic acidemia—PPA), and fatty acid oxidation disorders (e.g.. Medium-chain acyl-CoA Dehydrogenase deficiency—MCAD) [9]. Although the price of this capital equipment could be high, costs of using it as a sensor is quite low (usually < U.S. 50.00 to screen for more than 20 metabolic disorders), and many states in the United States provide the service to newborns during the first week of life. 

Jones PM, Bennett MJ. The changing face of newborn screening diagnosis of inborn errors of metabolism by tandem mass spectrometry. CUn Chim Acta. 

McHugh D, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry a worldwide collaborative project. Genet Med. 201T,13(3) 230-54. 

Ficicioglu C, et al. Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr. 2010 156(3) 492-4. 

Ensenauer R, et al. Newborn screening for isovaleric acidemia using tandem mass spectrometry data from 1.6 million newborns. Clin Chem. 2011 57(4) 623-6. 

Dionisi-Vici C, et al. Classical organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis. 2006 29(2-3) 383-9. 

Chace DH, Sherwin JE, and Hillman SL (1998) Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clinical Chemistry 44 2405-2409. 

---