Newborn Screening
The screening can detect up to 22 disorders, most of which are inherited metabolic disorders. The test is done by taking four to six drops of blood from the heel on the second day of life, but not less than 36 hours after birth.
The disorders that are investigated in Germany are those where the body lacks certain enzymes and cannot properly metabolize a particular metabolite. This leads to an accumulation of toxic products in the body, causing damage to specific organs that are characteristic of that specific disorder. The disorders that are investigated in Germany are for example phenylketonuria, hyperphenylalaninemia, glutaric acidemia type I, isovaleric acidemia, Inborn errors of fatty acid metabolism.
If the test is normal, you won't hear anything about it. In case the test is positive for a disorder, the parents will be immediately informed to make an appointment with a specialist. The therapy and intervention depends on the specific disorder.
The Screening has an overall detection rate of 1 in 1000, but most of the severe disorders are very rare. Therefore, this test is incredibly important for the early detection and intervention of such disorders, ensuring that your child receives the necessary medical attention and care. In conclusion, the Screening is a simple and invaluable blood test that all newborns in Germany undergo with parental consent. It detects harmful or fatal disorders that may not be apparent at birth, ensuring early intervention and treatment. We highly encourage parents to consent to the Screening for their newborns.
Ressources:
https://www.screening-dgns.de/
https://register.awmf.org/assets/guidelines/024-012l_S2k_Neugeborenenscreening_2022-02_01.pdf