For the Public

What is newborn screening ?
Newborn (or neonatal) screening is a process of testing newborn babies for increased risk of certain rare diseases, which in case of early detection and early treatment can prevent serious injury to a child.

Which diseases are included in the newborn screening ?
Five new metabolic disorders have been added to the screening panel in June 2016, which makes it total of 18 diseases being currently tested in the Czech newborn screening program:

  • Endocrine disorders
    • Congenital hypothyroidism
    • Congenital adrenal hyperplasia
  • Disturbances of amino acid metabolism
    • Argininemia
    • Citrullinemia
    • Phenylketonuria
    • Glutaric aciduria, Type I (glutaryl-CoA dehydrogenase deficiency)
    • Homocystinuria from CBS deficiency, pyridoxine non-responsive
    • Homocystinuria from MTHFR deficiency
    • Isovaleryl-CoA dehydrogenase deficiency (Isovaleric acidemia)
    • Maple syrup urine disease
  • Disorders of fatty acid oxidation
    • Carnitine uptake/transporter defects
      • Carnitine-acylcarnitine translocase deficiency
      • Carnitine palmitoyl transferase I deficiency (CPT I)
      • Carnitine palmitoyl transferase II deficiency (CPT II)
    • Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)
    • Long chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
    • Medium chain acyl-CoA dehydrogenase deficiency (MCADD)
  • Biotinidase deficiency
  • Cystic fibrosis
    • Cystic fibrosis

Most of these diseases are curable, while in some diseases early treatment can significantly improve the quality of life.

What are the chances that my child will have one of these diseases?
The probability is very small. Approximately only 1 in 1,000 newborns has one of these diseases. But it is the one of 1000 births; neonatal screening improves health and in some cases even saves lives.

How is newborn screening done?
At the age of 48-72 hours after birth several drops of blood from the heel of the child are sampled on a special paper and sent for analysis to the screening laboratory. In the event that there was no suspicion of the screened disease (negative result), the respective laboratory does not issue a formal statement on normal findings.

In case of positive findings (i.e. in case of increased risk), the screening laboratory or your pediatrician will contact you - usually within a week following sampling. For this reason, it is important to provide the maternity ward with your contact information as well as information about the general practitioner to whom your child will get affiliated after discharge from the maternity ward, ideally by rendering your mobile phone number.

Please, keep in mind, that positive finding of a screening test doesn't mean that your child is "automatically" affected by one of these diseases, since it merely indicates an increased level of risk. Definitive diagnosis requires further special testing and such steps depend on the type of disease for which an increased risk was observed in the screening program.

For more general information about diseases and newborn screening procedures in English please refer to the website of newborn screening programs in the U. S.: Newborn Screening: A Guide for Parents or alternatively U. S. National Library of Medicine.