Abstract
All neonates born in the Czech Republic are sampled by a heel prick to obtain dried blood spots on filter papers. These samples are mailed to the central screening laboratories and are subjected to screening analyses.
Precise rules of neonatal screening have been published in the Official Reports of the Czech Ministry of Health. These rules are being updated according to the developments in newborn screening.
Neonatal screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia was started in 1975, 1985 and in 2006, respectively. The spectrum of screened diseases was expanded in October 1st 2009 by adding cystic fibrosis and 9 other inherited metabolic disorders - maple syrup urine disease, glutaric aciduria type I, isovaleric aciduria, medium- long- and very long chain fatty acid acyl-CoA dehydrogenase deficiencies, carnitine palmitoyltransferase I and II deficiencies, and carnitine-acylcarnitine translocase deficiency.
The expected cumulative prevalency of these 13 diseases presently screened in the Czech Republic is about 1 : 1200. The aim of this article is to inform readers about the developments and news in neonatal screening in the Czech Republic and to evaluate the efficiency of screening programme based on analysis of screening results since 2002.