With prenatal tests it is possible to know if a foetus has cystic fibrosis even during pregnancy. This test is recommended if there is a justified suspicion – for instance, if there is already a child in the family with cystic fibrosis.
Back in the 1950s, scientists found that the salt content in sweat is elevated in patients with cystic fibrosis. The sweat test has officially been used for the diagnosis of cystic fibrosis since 1959. It can be performed from the third day after the child is born. The sweat is analysed to determine the content of sodium or chloride. If it is much higher than the normal range, there is a strong suspicion that the child has cystic fibrosis.
In combination with the sweat test the blood is also usually tested. Increased values of IRT (immune-reactive trypsin) and PAP (pancreas-associated protein) may indicate that the disease is present. If in doubt, a genetic test can give a definitive answer.
Since 1 September 2016, all new-born infants undergo new-born screening throughout Germany. The aim is to identify genetic metabolic and hormone diseases at an early stage. Early treatment supports the development of the child as much as possible and increases the chances of a longer and healthier life.
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