Expanded Screening

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:

Endocrinopathies:
  • Congenital hypothyroidism (CH) - underactive thyroid (since 1985)
  • Congenital adrenal hyperplasia (CAH) - disease of the adrenal cortex (since 2003)
Other diseases:
  • 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.

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