Heidelberg scientists have identified 21 congenital metabolic diseases that meet the criteria for inclusion in newborn screening. The disease in question must be serious, but also easy to diagnose and treat. In July of this year, pilot study with total of 500,000 newborns is to start in Heidelberg, in which the possible new target diseases will be included in the newborn screening.
This high number can be achieved because the Heidelberg newborn screening annual samples from More than 100,000 newborns from Baden-Württemberg, Rhineland-Palatinate and Saarland are examined.
The Study and the technology required for it from the. It provides modern, so-called tandem mass spectrometers, which greatly simplify the analysis of blood samples and, if necessary, subsequent diagnostics.
According to the results so far, the development has proceeded of the children, on average, three years old, largely normal - thanks to the therapy initiated after the screening. Now the observation period is to be extended to the first ten years of life. “In the years to come, these children will face important developmental tasks, such as entering school. This shows very clearly how well the children have grown, ”explained Georg Hoffmann, managing director of the Center for Child and Adolescent Medicine in Heidelberg. The findings from the long-term observation could improve the therapy of the disease and the psychosocial support of the families, said Hoffmann.