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For the examination, a few drops of blood are usually taken from the baby’s heel. Ideally, the collection takes place between the 36th and 72nd hour of life, i.e. one and a half to three days after the birth. Participation in the screening is voluntary. The results of the test provide clues, but are not yet a diagnosis.
The cause of sickle cell disease, which affects around 150 children in Germany every year, is a congenital genetic defect. It ensures that the red blood cells twist and take on a sickle shape. According to the G-BA, the disease is often only discovered after months or years without an early blood test. Discovered shortly after birth and then carefully monitored and treated, complications and “acute organ crises” could be avoided.
Spinal muscular atrophy is also a rare disease. It is estimated that 80 to 120 children are born in this country every year. The genetic disease leads to the progressive death of motor nerve cells in the spinal cord. If they are treated early, affected children can develop motor skills such as sitting, crawling or walking better, according to the G-BA.
Other diseases, the signs of which the blood is examined for during this screening, include maple syrup disease and certain fatty acid metabolic defects. According to the G-BA, an estimated one in 1000 newborns has a rare congenital disease that is not yet recognizable in them by external signs.
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Source: dpa
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