Abstract
Newborn screening of inherited metabolic diseases is a preventative program; it enables an early diagnosis and effective treatment of patients with these rare diseases and thus improves their quality of life. Newborn screening programs are expanding worldwide due to the progress in technology and treatment.
In the Czech Republic, the newborn screening program started by detecting phenylketonuria in 1975 and expanded gradually by addition of other inherited metabolic disorders in 2009 and 2016. At present 15 inherited metabolic disorders are searched for as primary targets, however, the screening program may detect other diseases that are not primarily searched for.
Determination of metabolites by tandem mass spectrometry or of enzyme activities by fluorimetry in dried blood spots are the primary approaches for newborn screening of inherited metabolic disorders. The quality of dried blood spots is the prerequisite for achieving relevant results.
Newborn screening may generate false positive results; the likelihood of false positivity in screening of inherited metabolic disorders is currently 1:1000. False negative results are rare, but it is necessary to think about such possibility.
Since 2010, a total of 268 patients with targeted diseases or relevant condition such as vitamin B12 deficiency or partial biotinidase deficiency were detected. The overall incidence of 15 inherited metabolic disorders in newborn screening in the population of the Czech Republic is approximately 1:2500 and it is comparable to well-functioning screening programs abroad.