1. Newborn screening Doc. MUDr. Marie Černá, CSc. Lecture No 423-H

2. What is screening programme? Newborn screening (NS) is an active and nation-wide searching of diseases during their early, preclinical periods so as to diagnose and treat these diseases before their clinical manifestations and subsequently irreversible health damage of newborns.

3. Its performance It is based on the analysis of dry drop of blood bound to the filter paper – so- called the newborn screening card. Blood is sampling under defined conditions from all newborns born in the region of the Czech Republic (the 48 th -72 nd hour of life).

4. Sampling of blood dry drop

6. time sampling (the 48 th – 72 nd hour) sample shipment every working day into 2 laboratories acquainted approval

7. Source: US National Newborn Screening Network, public domain, no copyrights Numbers of tested diseases in the U.S.A. (state in 2008):

8. Source: International Society for Neonatal Screening (ISNS) Numbers of tested diseases in Europe (state in 2009):

9. 13 diseases are tested in the Czech Republic from 1.10.2009: congenital decreased function of thyroid gland (congenital hypothyroidism - CH) congenital insufficiency of hormone production in adrenal glands (congenital adrenal hyperplasia - CAH) congenital disorder of mucus production (cystic fibrosis - CF) 4 hereditary disturbances of amino acid metabolism 6 hereditary disorders of fatty acid oxidation

10. Congenital adrenal hyperplasia

11. Cystic fibrosis

12. Phenylketonuria

13. – congenital disturbance of amino acid metabolism of phenylalanine (phenylketonuria - PKU and hyperphenylalaninemia - HPA) – congenital disturbance of metabolism of branching amino acids (leucinosis, Maple syrup urine disease - MSUD) – glutaric aciduria type I (GA I) – isovaleric aciduria (IVA) Hereditary disturbances of amino acid metabolism

14. Hereditary disorders of fatty acid oxidation – medium chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) – long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD deficiency) – very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) – carnitine palmitoyl transferase I deficiency (CPT I d.) – carnitine palmitoyl transferase II deficiency (CPT II d.) – carnitine-acylcarnitine translocase deficiency (CACT d.)