Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection
by
Stefan Gaugler 1,
Jana Rykl 2,
Irene Wegner 3,
Tamara Von Däniken 4
,
Ralph Fingerhut 4,† and
Götz Schlotterbeck 3,*,†
Stefan Gaugler 1,
Jana Rykl 2,
Irene Wegner 3,
Tamara Von Däniken 4,
Ralph Fingerhut 4,† and
Götz Schlotterbeck 3,*,†
1
CAMAG, Sonnenmattstr. 11, 4132 Muttenz, Switzerland
2
Shimadzu Schweiz GmbH, Römerstrasse 3, 4153 Reinach, Switzerland
3
Institute of Chemistry and Bioanalytics, University of Life Sciences, University of Applied Sciences Northwestern Switzerland FHNW, Gründenstr. 40, 4132 Muttenz, Switzerland
4
Swiss Newborn Screening Laboratory, Division of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
*
Author to whom correspondence should be addressed.
†
These authors have contributed equally to the work.
Int. J. Neonatal Screen. 2018, 4(1), 2; https://doi.org/10.3390/ijns4010002
Received: 12 September 2017 / Revised: 18 October 2017 / Accepted: 23 December 2017 / Published: 29 December 2017
A new and fully automated newborn screening method for mass spectrometry was introduced in this paper. Pathological relevant amino acids, acylcarnitines, and certain steroids are detected within 4 min per sample. Each sample is treated in an automated and standardized workflow, where a mixture of deuterated internal standards is sprayed onto the sample before extraction. All compounds showed good linearity, and intra- and inter-day variation lies within the acceptance criteria (except for aspartic acid). The described workflow decreases analysis cost and labor while improving the sample traceability towards good laboratory practice.
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Keywords:
newborn screening (NBS); dried blood spots (DBS); automation
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Gaugler, S.; Rykl, J.; Wegner, I.; Von Däniken, T.; Fingerhut, R.; Schlotterbeck, G. Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection. Int. J. Neonatal Screen. 2018, 4, 2.
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