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.
Competing interests: None declared
Authors Cloppenborg T and Janzen N contributed equally
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Acknowledgments
We are grateful to M. Terhardt, Dr. S. Sander, and the other laboratory staff of the “Screening-Labor Hannover” for technical assistance and the staff from the screening laboratory in Copenhagen for providing the initial screening card from the patient.
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Communicated by: Bridget Wilcken
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Compliance with Ethics Guidelines
Thomas Cloppenborg, Nils Janzen, Hans-Joachim Wagner, Ulrike Steuerwald, Michael Peter, and Anibh Martin Das declare that they have no conflict of interest.
Details of the Contributions of Individual Authors
T. Cloppenborg treated the child at the metabolic clinic and drafted the manuscript, N. Janzen drafted the manuscript and supervised the technical analysis, H.J. Wagner initiated the second neonatal screening and is the community pediatrician of the patient, U. Steuerwald and M. Peter evaluated the results at the screening laboratory, A.M. Das treated the child at the metabolic clinic and finalized the manuscript.
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Cloppenborg, T., Janzen, N., Wagner, H., Steuerwald, U., Peter, M., Das, A. (2013). Application of a Second-Tier Newborn Screening Assay for C5 Isoforms. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Case and Research Reports, Volume 13. JIMD Reports, vol 13. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_275
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DOI: https://doi.org/10.1007/8904_2013_275
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