In Newborn Screening Center of Slovakia we examine 13 congenital and inherited diseases for all newborns. In the preparatory phase – till the end of 2012 – we did so within the so-called pilot study. This screening is performed across the board since January 1st 2013 - for all newborns by special methodological guidelines (Journal of the Ministry of Health of the Slovak republic No. 39-60/2012), which defines the roles for all facilities involved - neonatal departments, primary care physicians, screening center and doctors-specialists from recall centers.
Following diseases are examined for newborns:
- Cystic fibrosis (CF) - multiorgan chronic disease (since 2009)
Inborn metabolic disorders (IMD):
- Phenylketonuria (PKU) - defective metabolism of phenylalanine amino acid (since 1995)
Since January 1st 2013 have been added to the screening:
- Leucinosis (MSUD) – defective metabolism of branched amino acids
- Isovaleric Aciduria (IVA) and Glutaric Aciduria I (GAI) - organic acidurias
- Mitochondrial Fatty Acid Oxidation Disorders - have specific names that express, in which step of metabolism the lacks of an important enzyme is - MCAD, VLCAD, CPT I, CPT II. A CACT, LCHAD.