Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
권호 표지
DOI QR코드

DOI QR Code

Comprehensive Evaluation of the NeoBase 2 Non-derivatized MSMS Assay and Exploration of Analytes With Significantly Different Concentrations Between Term and Preterm Neonates

  • Beomki Lee (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Won Young Heo (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jee Ah Kim (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Hyun-Seung Lee (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Narae Hwang (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Hyung-Doo Park (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Se In Sung (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Yun Sil Chang (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Won Soon Park (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Soo-Youn Lee (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2022.02.07
  • Accepted : 2022.09.29
  • Published : 2023.03.01
Download PDF
⟨ Previous Next ⟩

Abstract

Background: Despite the popularity of the NeoBase 2 Non-derivatized MSMS assay (PerkinElmer, Turku, Finland), there are no reports of its comprehensive evaluation, including the ability to distinguish transient tyrosinemia of the newborn (TTN) from tyrosinemia type 1 (TYR 1) using succinylacetone (SUAC). No newborn screening (NBS) cutoffs for preterm neonates in the Korean population have been suggested. We evaluated the NeoBase 2 assay and identified analytes requiring different cutoffs in preterm neonates. Methods: Residual NBS dried blood spot samples and proficiency testing (PT) materials of the Newborn Screening Quality Assurance Program and the Korean Association of External Quality Assessment Service were used. Precision, accuracy, limit of detection (LOD), lower limit of quantification (LLOQ), linearity, recovery, carryover, and performance of SUAC were evaluated. Cutoffs were determined, and analytes requiring different cutoffs in preterm neonates were investigated. Results: Mean CVs for within-run and between-day precision were within 15%. Accuracy analysis indicated high agreement with in-house derivatized assay results and results of other PT participants. All analytes demonstrated acceptable LOD, LLOQ, and linearity. Recoveries were acceptable, except for SUAC. Carryover was negligible. Cutoffs were established for all analytes; Tyr, adenosine, and C20:0-lysophosphatidylcholine required different cutoffs in preterm neonates. Differential diagnosis of TYR 1 and TTN was successful with simultaneous Tyr and SUAC measurement. Conclusions: The NeoBase 2 assay demonstrated satisfactory performance. The additional analytes provide a wider diagnostic coverage, and the simultaneous measurement of Tyr and SUAC is efficient in excluding TYR 1. The new cutoffs for preterm neonates may decrease false-positive rates, without compromising diagnostic sensitivity.

Keywords

Acknowledgement

We thank Kim DJ, Oh H, and Kim HK for performing the assays. We also thank Bio-Medical Science (BMS) for supplying the NeoBase 2 Non-derivatized MSMS kits.

References

  1. 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;111:1399-406. https://doi.org/10.1542/peds.111.6.1399
  2. Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003;348:2304-12. https://doi.org/10.1056/NEJMoa025225
  3. Centers for Disease Control and Prevention (CDC). Newborn Screening Quality Assurance Program (NSQAP) 2020 Quality control program report. https://www.cdc.gov/labstandards/pdf/nsqap/QC_Report_S1_2020-508.pdf (Updated on Jun 2020).
  4. Cicalini I, Valentinuzzi S, Pieragostino D, Consalvo A, Zucchelli M, Donzelli S, et al. Analytical evaluation of the ideal strategy for high-throughput flow injection analysis by tandem mass spectrometry in routine newborn screening. Metabolites 2021;11:473. https://doi.org/10.3390/metabo11080473
  5. Zheng Y, Chen Y, Qiu X, Chen W, Lin Q, Zeng Y, et al. A verification of the application of the non-derivatized mass spectrometry method in newborns screening of metabolic disorders. Medicine (Baltimore) 2019;98: e15500. https://doi.org/10.1097/MD.0000000000015500
  6. U.S. Food and Drug Administration. 510(k) Premarket notification (K17 3568). https://www.accessdata.fda.gov/cdrh_docs/reviews/K173568.pdf (Updated on Sept 2018).
  7. Levy HL, Shih VE, Madigan PM, MacCready RA. Transient tyrosinemia in full-term infants. JAMA 1969;209:249-50. https://doi.org/10.1001/jama.1969.03160150035008
  8. Zea-Rey AV, Cruz-Camino H, Vazquez-Cantu DL, Gutiérrez-García VM, Santos-Guzmán J, Cantú-Reyna C. The incidence of transient neonatal tyrosinemia within a Mexican population. J Inborn Errors Metab Screen 2017;5: e170016. https://doi.org/10.1177/2326409817744230
  9. Park HD, Lee DH, Choi TY, Lee YK, Kim JW, Ki CS, et al. Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1. Clin Chem Lab Med 2009;47:930-3. https://doi.org/10.1515/CCLM.2009.223
  10. Choi HJ, Bang HI, Ki CS, Lee SY, Kim JW, Song J, et al. Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I. Ann Clin Lab Sci 2014;44:317-23.
  11. Clark RH, Kelleher AS, Chace DH, Spitzer AR. Gestational age and age at sampling influence metabolic profiles in premature infants. Pediatrics 2014;134:e37-46. https://doi.org/10.1542/peds.2014-0329
  12. Gucciardi A, Zaramella P, Costa I, Pirillo P, Nardo D, Naturale M, et al. Analysis and interpretation of acylcarnitine profiles in dried blood spot and plasma of preterm and full-term newborns. Pediatr Res 2015;77: 36-47. https://doi.org/10.1038/pr.2014.142
  13. Liu Q, Wu J, Shen W, Wei R, Jiang J, Liang J, et al. Analysis of amino acids and acyl carnitine profiles in low birth weight, preterm, and small for gestational age neonates. J Matern Fetal Neonatal Med 2017;30: 2697-704. https://doi.org/10.1080/14767058.2016.1261395
  14. Lee HS. Arginine, as a key indicator for real-time stability monitoring of quality control in the newborn screening test using dried blood spot. Separations 2021;8:201. https://doi.org/10.3390/separations8110201
  15. CLSI. Newborn screening by tandem mass spectrometry. CLSI NBS04. Wayne, PA: Clinical and Laboratory Standards Institute, 2017.
  16. CLSI. Liquid chromatography-mass spectrometry methods; approved guideline. CLSI C62-A. Wayne, PA: Clinical and Laboratory Standards Institute, 2014.
  17. Moon SY, Choi HJ, Kim S, Lee K, Lee SG, Song SH, et al. Recommendations for liquid chromatography-mass spectrometry in the clinical laboratory: part II. Method validation. Lab Med Online 2020;10:95-108. https://doi.org/10.3343/lmo.2020.10.2.95
  18. Wickham H. ggplot2: elegant graphics for data analysis. Use R, 2016.
  19. CLSI. Defining, establishing, and verifying reference intervals in the clinical laboratory; approved guideline-third edition. CLSI EP28-A3C. Wayne, PA: Clinical and Laboratory Standards Institute, 2010.
  20. Centers for Disease Control and Prevention (CDC). Newborn Screening Quality Assurance Program (NSQAP) 2020 Annual Summary Report. https://www.cdc.gov/labstandards/pdf/nsqap/NSQAP_Annual_Summary_2020-508.pdf (Updated on Aug 2020).
  21. Lee SY. Report of the Korean Association of External Quality Assessment Service on metabolite testing (2018–2019). Lab Med Qual Assur 2020;42:10-25. https://doi.org/10.15263/jlmqa.2020.42.1.10
  22. Cho SE, Park EJ, Seo DH, Lee IB, Lee HJ, Cho DY, et al. Neonatal screening tests for inherited metabolic disorders using tandem mass spectrometry: experience of a clinical laboratory in Korea. Lab Med Online 2015; 5:196-203. https://doi.org/10.3343/lmo.2015.5.4.196
  23. Chae H, Cho SE, Park HD, Chun S, Lee YW, Yun YM, et al. Use of liquid chromatography-tandem mass spectrometry for clinical testing in Korean laboratories: a questionnaire survey. Ann Lab Med 2019;39:447-53. https://doi.org/10.3343/alm.2019.39.5.447
  24. Choi R, Chun MR, Park J, Lee JW, Ju HY, Cho HW, et al. Quantification of thioguanine in DNA using liquid chromatography-tandem mass spectrometry for routine thiopurine drug monitoring in patients with pediatric acute lymphoblastic leukemia. Ann Lab Med 2021;41:145-54. https://doi.org/10.3343/alm.2021.41.2.145
  25. Choi R, Park HD, Oh HJ, Lee K, Song J, Lee SY. Dried blood spot multiplexed steroid profiling using liquid chromatography tandem mass spectrometry in Korean neonates. Ann Lab Med 2019;39:263-70. https://doi.org/10.3343/alm.2019.39.3.263
  26. Hall PL, Marquardt G, McHugh DM, Currier RJ, Tang H, Stoway SD, et al. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med 2014;16:889-95. https://doi.org/10.1038/gim.2014.62
  27. Saudubray J-M. van den Berghe G, Walter JHW. Inborn metabolic diseases: diagnosis and treatment. 5th ed. Berlin: Springer, 2012:656.
  28. Levy HL, Shih VE, Madigan PM. Routine newborn screening for histidinemia. Clinical and biochemical results. N Engl J Med 1974;291:1214-9. https://doi.org/10.1056/NEJM197412052912303
  29. Lam WK, Cleary MA, Wraith JE, Walter JH. Histidinaemia: a benign metabolic disorder. Arch Dis Child 1996;74:343-6. https://doi.org/10.1136/adc.74.4.343
  30. Rappold BA. Review of the use of liquid chromatography-tandem mass spectrometry in clinical laboratories: part I-development. Ann Lab Med 2022;42:121-40. https://doi.org/10.3343/alm.2022.42.2.121
  31. Pickens CA, Sternberg M, Seeterlin M, De Jesús VR, Morrissey M, Manning A, et al. Harmonizing newborn screening laboratory proficiency test results using the CDC NSQAP reference materials. Int J Neonatal Screen 2020;6:75. https://doi.org/10.3390/ijns6030075
  32. CLSI. Newborn screening for preterm, low birth weight, and sick newborns; approved guideline. 2nd ed. CLSI NBS03-A. Wayne, PA: Clinical and Laboratory Standards Institute, 2019.
  33. Panfoli I, Cassanello M, Bruschettini M, Colella M, Cerone R, Ravera S, et al. Why do premature newborn infants display elevated blood adenosine levels? Med Hypotheses 2016;90:53-6. https://doi.org/10.1016/j.mehy.2016.03.007
  34. Peng G, Tang Y, Cowan TM, Zhao H, Scharfe C. Timing of newborn blood collection alters metabolic disease screening performance. Front Pediatr 2020;8:623184. https://doi.org/10.3389/fped.2020.623184
  35. De Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D. Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. Mol Genet Metab 2014;113:67-75. https://doi.org/10.1016/j.ymgme.2014.07.010
  36. Flinn AM and Gennery AR. Adenosine deaminase deficiency: a review. Orphanet J Rare Dis 2018;13:65. https://doi.org/10.1186/s13023-018-0807-5
  37. Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, et al. Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. Mol Genet Metab 2015;114:46-50. https://doi.org/10.1016/j.ymgme.2014.11.013
  38. Mashima R, Tanaka M, Sakai E, Nakajima H, Kumagai T, Kosuga M, et al. A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS. Mol Genet Metab Rep 2016;7:16-9. https://doi.org/10.1016/j.ymgmr.2016.02.007
  39. Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, et al. Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina. JAMA Netw Open 2020;3:e1920356. https://doi.org/10.1001/jamanetworkopen.2019.20356
  40. Adam BW, Hall EM, Meredith NK, Lim TH, Haynes CA, De Jesus VR, et al. Performance of succinylacetone assays and their associated proficiency testing outcomes. Clin Biochem 2012;45:1658-63. https://doi.org/10.1016/j.clinbiochem.2012.08.007