Abstract
Introduction: laboratory newborn screening (LNS) is a preventive population-wide program that enables early diagnosis and efficient treatment of patients with selected congenital and hereditary diseases and improves significantly their quality of life. Methodology: analysis of capillary blood collected between 48 and 72 hours of life in the form of a dried blood spot by tandem mass spectrometry, fluorimetry, immunoassay and molecular genetic methods.
Results: in the Czech Republic, LNS was started in 1975 with a search for phenylketonuria (PKU), further expanded in 1985 by congenital hypothyroidism (CH), in 2006 by congenital adrenal hyperplasia (CAH), in 2009 by cystic fibrosis (CF) and 9 other inborn metabolic diseases. The number of diseases was further expanded in 2016.
In 2010-2020, a total of 1,100 patients with one of the target diseases were diagnosed with LNS by analysing more than 1.2 million newborns. The cumulative neonatal prevalence of all 18 diseases is 1: 1,100.
The most common diseases are CH, PKU, CF and partial biotinidase deficiency. From 2022, the start of a pilot program for further LNS expansion by adding spinal muscular atrophy and severe combined immunodeficiencies is planned.
Conclusion: advances in technology and treatment enable expansion of LNS programs worldwide in compliance with the still valid WHO criteria according to Wilson and Jungner.