What Does Screening Mean

Newborn screening

Screening means searching for a specific disease or infirmity in population. Newborn screening is a preventive program to search for birth defects in newborns. Examples include the search of congenital abnormalities of the urinary tract and dislocations of the hip joint using ultrasound. Newborn screening is performed in a sole center - Newborn Screening Center of Slovakia. It is focused on search of selected birth defects of endocrines and metabolism, which have several common characteristics:

  • Children are born without any symptoms - seemingly healthy.
  • Inborn disorder is manifested gradually. Primarily, it permanently damages the development of the brain, as well as the other organs. When fully manifested, the child remains permanently damaged despite treatment.
  • Early detection of screening enables an effective treatment even before the damage and ensures the healthy development of the child.

Screening detects 4 diseases - congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia and cystic fibrosis.

Congenital Hypothyroidism (CH)

Congenital hypothyroidism is an inborn thyroid disease. It is caused by impaired production of thyroid hormones, which are needed for proper growth and mental development of the child. The treatment is the administration of the thyroid hormones.

Phenylketonuria (PKU)

PKU is heritable metabolic disorder of phenylalanine amino acid. The organism of a child afflicted with phenylketonuria is not able to handle properly the substance contained in proteins. Child requires a special low phenylalanine diet.

Congenital Adrenal Hyperplasia (CAH)

CAH is heritable disorder of life-threatening adrenal hormones production as well as threatening of optimal development of the reproductive organs. Starting of hormonal treatment can prevent serious metabolic changes in the child organism and in the most serious cases will save the child's life.

Cystic Fibrosis (CF)

Cystic fibrosis is heritable disease that chronically affects lungs, pancreas, liver and other organs. Manifestations of the disease and its seriousness are different for individual patients. The treatment of CF depends on the level of disease seriousness. Majority of CF patients must take pancreatic enzymes, high-calorie and  high-fat diet, antibiotics and they are under constant surveillance by an expert of the Center for CF treatment. Newborn screening of CF improves the course of the disease and gives a good prognosis just because of early detection of the disease.


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