Application of a Second-tier Newborn Screening Assay for C5 Isoforms

Overview

Journal JIMD Rep

Publisher Wiley

Date 2013 Nov 7

PMID 24193437

Citations 6

Authors

T Cloppenborg

N Janzen

Hj Wagner

U Steuerwald

M Peter

Am Das

Affiliations

Soon will be listed here.

Abstract

We report a case of false-positive metabolic screening for isovaleric acidemia in a newborn due to treatment of the mother with pivalic acid containing antibiotics before delivery. By using a recently established second-tier test based on the tandem-MS technique, we could identify pivalic acid in a dried blood sample taken during routine neonatal screening. Before this second-tier test was initiated, diverse analytical procedures were performed in the baby to rule out isovaleric acidemia and carnitine supplementation was started. This caused additional psychological burden to the family. The direct use of the second-tier test would have avoided these negative consequences of a false-positive screening result.

Citing Articles

Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.

Zhou W, Huang T, Li H, Gu M Mol Genet Genomic Med. 2024; 12(11):e70034.

PMID: 39555752 PMC: 11571094. DOI: 10.1002/mgg3.70034.

Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.

Carling R, Hedgethorne K, Chakrapani A, Hall P, Flynn N, Greenfield T Int J Neonatal Screen. 2024; 10(1).

PMID: 38535128 PMC: 10970767. DOI: 10.3390/ijns10010024.

[Development of analytics in newborn screening-from the Guthrie card to genetics].

Janzen N, Sander J Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023; 66(11):1214-1221.

PMID: 37828293 PMC: 10622357. DOI: 10.1007/s00103-023-03774-5.

A Simple Flow Injection Analysis-Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions.

Hattori T, Notsu Y, Tanaka M, Matsui M, Iida T, Watanabe J Children (Basel). 2022; 9(5).

PMID: 35626871 PMC: 9139860. DOI: 10.3390/children9050694.

[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].

Hu Z, Yang J, Hu L, Zhao Y, Zhang C, Yang R Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020; 49(5):556-564.

PMID: 33210480 PMC: 8800726. DOI: 10.3785/j.issn.1008-9292.2020.10.02.

References

Ferrer I, Ruiz-Sala P, Vicente Y, Merinero B, Perez-Cerda C, Ugarte M . Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias. J Chromatogr B Analyt Technol Biomed Life Sci. 2007; 860(1):121-6. DOI: 10.1016/j.jchromb.2007.10.018. View

Maeda Y, Ito T, Ohmi H, Yokoi K, Nakajima Y, Ueta A . Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci. 2007; 870(2):154-9. DOI: 10.1016/j.jchromb.2007.11.037. View

Abdenur J, Chamoles N, Guinle A, Schenone A, Fuertes A . 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(6):624-30. DOI: 10.1023/a:1005424331822. View

Melegh B, Kerner J, Bieber L . Pivampicillin-promoted excretion of pivaloylcarnitine in humans. Biochem Pharmacol. 1987; 36(20):3405-9. DOI: 10.1016/0006-2952(87)90318-2. View

McHugh D, Cameron C, Abdenur J, Abdulrahman M, Adair O, Al Nuaimi S . Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011; 13(3):230-54. DOI: 10.1097/GIM.0b013e31820d5e67. View

Sander J, Janzen N, Peter M, Sander S, Steuerwald U, Holtkamp U . Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. Clin Chem. 2006; 52(3):482-7. DOI: 10.1373/clinchem.2005.059790. View

Smith E, Matern D . Acylcarnitine analysis by tandem mass spectrometry. Curr Protoc Hum Genet. 2010; Chapter 17:Unit 17.8.1-20. DOI: 10.1002/0471142905.hg1708s64. View

Hewlett J, Waisbren S . A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis. 2006; 29(5):677-82. DOI: 10.1007/s10545-006-0381-1. View

Maeda Y, Ito T, Suzuki A, Kurono Y, Ueta A, Yokoi K . Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry. Rapid Commun Mass Spectrom. 2007; 21(5):799-806. DOI: 10.1002/rcm.2905. View

10.

Fyro K, Bodegard G . Four-year follow-up of psychological reactions to false positive screening tests for congenital hypothyroidism. Acta Paediatr Scand. 1987; 76(1):107-14. DOI: 10.1111/j.1651-2227.1987.tb10424.x. View

11.

Lipstein E, Perrin J, Waisbren S, Prosser L . Impact of false-positive newborn metabolic screening results on early health care utilization. Genet Med. 2009; 11(10):716-21. PMC: 2773165. DOI: 10.1097/GIM.0b013e3181b3a61e. View

12.

Forni S, Fu X, Palmer S, Sweetman L . Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis. Mol Genet Metab. 2010; 101(1):25-32. DOI: 10.1016/j.ymgme.2010.05.012. View

13.

Ensenauer R, Fingerhut R, Maier E, Polanetz R, Olgemoller B, Roschinger W . Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns. Clin Chem. 2011; 57(4):623-6. DOI: 10.1373/clinchem.2010.151134. View

14.

Janzen N, Steuerwald U, Sander S, Terhardt M, Peter M, Sander J . UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots. Clin Chim Acta. 2013; 421:41-5. DOI: 10.1016/j.cca.2013.03.001. View