For Health care proessionals
Neonatal screening in the Czech Republic
A. History
1958 – First pilot project of screening of phenylketonuria using an urine test in 5.000 school children
1966 – Facultative screening of amino acid disorders using Efron's chromatographic method within Prague region
1970-1972 – Pilot study of screening of phenylketonuria using Guthrie method within regions of Prague and Central Bohemia.
1975 – Regular nationwide neonatal screening of phenylketonuria in whole Czech Republic with laboratories in Ostrava, Brno and Prague was commenced.
1985 – Screening of congenital hypothyroidism was added to the regular nationwide neonatal screening program, including laboratories in Prague and Brno
2006 – Screening of congenital adrenal hyperplasia was added to the nationwide program.
October 2009 – The nationwide newborn screening program was expanded with screening of cystic fibrosis and nine additional metabolic diseases.
May 2010 – National Coordination Centre for Newborn Screening was established in General University Hospital in Prague.
June 2016 - further expansion of the Newborn screening program - conditions newly included in the screening panel are marked in the list below with an asterisk.
B. Present
At present there are 18 diseases tested in the Czech Republic:
- 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
C. Results of the Newborn Screening Program
In the table below you can find results of the Newborn Screening Program for the year 2014 as well as cumulative results since 2010 e.g. since the first full year of expanded screening program.
| Diagnosis |
Number of patients in 2016 |
Detection rate (2016) | False Positive Rate (%) 2016 |
Number of patients since 2010 |
Detection rate since 2010 |
|---|---|---|---|---|---|
| CH | 32 | 1 : 3 521 | 0,005 |
280 |
1 : 2 766 |
| CAH | 11 | 1 : 10 242 | 0,352 | 61 | 1 : 12 696 |
| PKU | 19 | 1 : 5 930 | 0,015 | 144 | 1 : 5 378 |
| MSUD | 0 | - | 0,001 | 1 | 1 : 774 486 |
| MCADD | 4 | 1 : 28 166 | 0,003 | 36 | 1 : 21 514 |
| LCHADD | 0 | - | 0 | 10 | 1 : 77 449 |
| VLCADD | 0 | - | 0,001 | 4 |
1 : 193 622 |
| CPT I | 0 | - | 0 | 0 | - |
| CPT II / CACT | 0 | - | 0 | 0 | - |
| GA I | 1 | 1 : 112 663 | 0,002 | 5 | 1 : 154 897 |
| IVA | 1 | 1 : 112 663 |
0,001 |
4 | 1 : 193 622 |
| ARG* | 0 | - |
0 |
||
| CIT* | 1 | 1 : 66 991 |
0,004 |
||
| BTD* | 9 | 1 : 7 445 |
0,015 |
||
| CBS* | 0 | - |
0,009 |
||
| MTHFR* | 0 | - |
0,003 |
||
| CF | 21 | 1 : 5 365 | 0,111 | 116 | 1 : 6 677 |
| TOTAL | 99 | 1 : 1 138 | 0,392 | 671 | 1 : 1 154 |
D. Contacts
For more information about newborn screening program in the Czech Republic please contact
Coordination Centre for Newborn Screening
Prof. Viktor Kožich, M.D., Ph.D., Chairman
Felix Votava, M.D., Ph.D., Vice-chairman
Email: kcns[at]vfn.cz
Phone: +420 224 967 167
Fax: +420 224 967 168