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Published on: September 15, 2018
Newborn Screening for Familial Hypercholesterolemia Using Liquid Chromatography Tandem Mass Spectrometry-Based Free
Dr Rer Med Anke Hannemann1, Dr Rer Nat Theresa Winter2, Dr Med Elisabeth Steinhagen-Thiessen3
1Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany; German Centre for Cardiovascular Research (DZHK), partnersite North, Greifswald, Germany.
Objective:
To describe the feasibility of free cholesterol (FC) measurement from dried blood spots (DBS) obtained during regular newborn screening in a pilot project in the Euroregion Pomerania, aimed ultimately to enhance the rates of familial hypercholesterolemia diagnoses.
Study Design:
DBS from 7973 babies born in 2019 and included in the "Innovative Polish-German Cross-Border Program for Early Diagnosis and Treatment of Rare Diseases in Newborns - RareScreen" project were analyzed. The FC concentration was measured in each DBS using liquid chromatography tandem mass spectrometry and the distribution was examined.
Results:
The FC concentration determined in the study sample ranged between 0.005 and 1.521 mmol/L (0.19 and 58.89 mg/dL), with a median of 0.709 mmol/L (27.4 mg/dL). There was no strong appearance of effects attributable to the newborn's sex, gestational age, birth weight, or age at sampling on the FC concentration. The 99.5% percentile for the FC concentration was 1.159 mmol/L (44.8 mg/dL).
Conclusions:
Our study demonstrated the feasibility of large-scale measurements of FC in DBS from newborns using liquid chromatography tandem mass spectrometry in a central study laboratory. The FC concentration was similar across selected demographic and clinical conditions of the newborns. FC may represent a novel marker for screening of lipid abnormalities but needs to be validated in future studies.
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