Newborn screening; counseling

All parents of newborn children are offered early detection examinations (newborn screening) for rare congenital diseases in the first few days of life.

Most children are born healthy and remain so. However, there are rare congenital diseases that are not yet recognizable by external signs in newborns. If left untreated, these diseases can lead to organ damage, mental and physical disabilities or even death. However, if they are detected and treated at an early stage, these consequences can be avoided or at least reduced in most cases. For screening, a few drops of blood (from the child's heel or vein) are dripped onto a filter paper test card on the 2nd to 3rd day of life and sent to a screening laboratory for examination.

In addition, a hearing screening for congenital hearing disorders and a screening for severe congenital heart defects is carried out in the first few days of life by determining the oxygen content in the blood using a light sensor ("pulse oximetry").

If the child is suspected of having one of these conditions, the parents are informed immediately, further checks are arranged and, if necessary, treatment is initiated.

Doctors in private practice, midwives, maternity and children's clinics, universities and large metabolic centers, health insurance companies and the public health service participate in the program. The latter ensures the completeness of the programs, supports the organization of necessary check-ups and, if necessary, the rapid initiation of treatment for the affected child.

All parents receive detailed written information about the screening program at the birth of their child. Before the newborn screening, the parents are informed by a doctor.