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

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023 Oct 12. doi: 10.1007/s00103-023-03774-5. Online ahead of print.ABSTRACTFor more than five decades, all newborns in Germany have been offered a screening examination for the early detection of congenital treatable diseases. Since its inception, about 35 million children have been screened in this way.Originally, screening exams only included early detection of phenylketonuria, which, without timely treatment, would lead to mental retardation that could no longer be corrected. The bacteriological Guthrie test allowed the detection of elevated concentrations of phenylalanine. The methods used today are the result of decades of development. They have been expanded to include tests to determine enzyme activities, immunoassays for the early detection of important hormonal disorders such as congenital hypothyroidism, and high-pressure liquid chromatography for the diagnosis of pathologic hemoglobins. The very sophisticated tandem mass spectrometry enables the simultaneous detection of amino acid and fatty acid compounds. Steroids can also be identified. The specificity can be further increased by combining tandem mass spectrometry with chromatographic pre-separation. In recent years, chemical-analytical analyses have been supplemented by genetic diagnostic methods such as quantitative or qualitative polymerase chain reaction (PCR).The current state of laboratory technology is by no means final. Both classical analyt...
Source: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz - Category: International Medicine & Public Health Authors: Source Type: research