Currently, 2 hormone (endocrine), 25 metabolic diseases and cystic fibrosis are included in the Austrian Newborn Screening panel. These diseases are described in more detail below.
In general, one of these diseases is diagnosed approximately in 1,000 infants. In most babies that are affected, these diseases have never occurred in the family before. Since the affected children can still appear completely healthy at birth, newborn screening is important in order to protect children at an early-stage of life in terms of serious diseases such as deficiencies in mental and physical development.
Detailed information is given you below to each single disorder included in newborn screening. Most of the information are provided by ORPHANET, a European website about orphan drugs and rare diseases. It contains content both for physicians and for patients. The information is also available for most diseases in Français, Español, Italiano and Português.