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Metabolic disorders in newborn babies

Since the 1960s newborn babies have been screened for congenital metabolic disorders.

Re- searchers at the Institute of Chemistry and Bioanalysis at the HLS are working to improve the laboratory methods used for this
screening. Up to now, midwives have put a drop of blood from the baby’s heel on filter paper for the Dry Blood Spot test. A central laboratory then tests the sample for signs of disease. One to three millimetre diameter discs are cut out of the filter paper with a punch, from which the blood is then extracted with a solvent. However the automated punching process is liable to errors, since the tiny discs can fly off and land in the extraction vessel of another sample and thus no longer be assigned to the baby.

The research group of chemist Götz Schlotterbeck have solved this problem in cooperation with the firm CAMAG and Zurich Children's Hospital. They analyse the sample directly on the filter paper using an extraction unit; this is a device that can detach the sample directly from the paper with a solvent, thereby eliminating the unreliability of the punching process. Schlotterbeck adapted the idea from an earlier thin film chromatography project: “The thin-film MS interface, which we developed with CAMAG about ten years ago, could transfer a sample directly from a thin-film plate to a mass spectrometer. That interface is relatively similar to the technology for newborn screening.” The chemist is not only looking at sample extraction but also wants to refine the analytical method and improve sample transfer to the analysis machine. “ With mass spectrometry we can measure approximately fifty different chemical substances for neonatal screening in a cycle time of only two minutes whilst simultaneously making the analysis results more reliable.”

FHNW School of Life Sciences

FHNW University of Applied Sciences and Arts Northwestern Switzerland School of Life Sciences Hofackerstrasse 30 CH - 4132 Muttenz
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