The Newborn screening helps to identify congenital metabolic diseases and endocrine disorders in time. The detection of these diseases at newborns provides the possibility of starting the required therapy as early as possible to prevent irreversible damages or developmental disturbances.
In Germany the nationwide Newborn screening was established in 2005 and includes diagnosis of hypothyroidism (Neonatal TSH ELISA kit), congenital adrenal hyperplasia (AGS), biotinidase deficiency, galactosemia or phenylketonuria (PKU). The costs are covered by public health insurance. In general, the Newborn screening only contains diseases with reliable diagnosis and known efficient therapy.
After declaration of consent by the parents and at the third day of life only few drops of blood were collected and added to special filter paper (Guthrie cards). These samples have to be examined in specialized screening labs. The results of Newborn screening do not serve as final diagnosis. They have to be confirmed by other tests.