Pilot newborn screening project for cystic fibrosis in the Czech Republic: Defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease

Journal of Cystic Fibrosis

Volumn 8, Issue 3, 2009, Pages 224-227

  Balaščaková, Miroslava ^a   Holubová, Andrea ^a   Skalická, Veronika ^a   Zemková, Dana ^a   Kračmar, Petr ^c   Gonsorčíkova, Lucie ^a   Čamajová, Jana ^a   Piskáčková, Tereza ^a   Lebl, Jan ^a   Dřevínek, Pavel ^a   Gregor, Vladimír ^b   Vávrová, Věra ^a   Votava, Felix ^c   Macek Jr , Milan ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

CF carriers; CFTR gene; Cystic fibrosis (OMIM 219700); Decentralisation of health care; DNA testing; Immunoreactive trypsinogen; Incidence; Newborn screening; Prenatal diagnosis

Indexed keywords

DNA; TRYPSINOGEN;

ARTICLE; CLINICAL EFFECTIVENESS; CONTROLLED STUDY; CYSTIC FIBROSIS; CZECH REPUBLIC; DECENTRALIZATION; DELAYED DIAGNOSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CARRIER; DNA DETERMINATION; EARLY DIAGNOSIS; FEASIBILITY STUDY; FETUS ECHOGRAPHY; HEALTH CARE NEED; HEALTH CARE QUALITY; HUMAN; IMMUNOREACTIVITY; INCIDENCE; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PATIENT CARE; PILOT STUDY; PRENATAL DIAGNOSIS; SECOND TRIMESTER PREGNANCY; TREND STUDY;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CZECH REPUBLIC; EARLY DIAGNOSIS; GENETIC SCREENING; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MODELS, ORGANIZATIONAL; NEONATAL SCREENING; PILOT PROJECTS; ULTRASONOGRAPHY, PRENATAL;

EID: 67349156719     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2009.01.002     Document Type: Article

References (20)

1. Sims E.J., Clark A., McCormick J., Mehta G., Connett G., and Mehta A. United Kingdom Cystic Fibrosis Database Steering Committee. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics 119 (2007) 19-28
2. McKay K., and Wilcken B. Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for. Paediatr Respir Rev 9 (2008) 290-294
3. Houštěk J., and Vávrová V. Our experience with mucoviscidosis. Rev Méd Liege 22 (1967) 421-426
4. Šamánek M., and Voříšková M. Infants with critical heart disease in a territory with centralized care. Int J Cardiol 16 (1987) 75-91
5. Earl-Slater A. Health-care reforms in the Czech Republic. J Manag Med 10 (1996) 13-22
6. Lhotská L., Bláha P., Vignerová J., Roth Z., and Prokopec M. Vth nation-wide anthropological survey 1991 in the Czech Republic comparison with 1981 data. Cent Eur J Public Health 2 (1994) 95-99
7. Brunecký Z. The incidence and genetics of cystic fibrosis. J Med Genet 9 (1972) 33-37
8. Křížová E., and Šimek J. Rationing of expensive medical care in a transition country: nihil novum?. J Med Ethics 28 (2002) 308-312
9. Rock M.J., Hoffman G., Laessig R.H., Kopish G.J., Litsheim T.J., and Farrell P.M. Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. J Pediatr 147 (2005) S73-S77
10. Křížová E., and Šimek J. Theory and practice of informed consent in the Czech Republic. J Med Ethics 33 (2007) 273-277
11. Bobadilla J.L., Macek Jr. M., Fine J.P., and Farrell P.M. Cystic fibrosis: a worldwide analysis of CFTR mutations: correlation with incidence data and application to screening. Hum Mutat 19 (2002) 575-606
12. Scotet V., Audrézet M.P., Roussey M., Rault G., Dirou-Prigent A., Journel H., et al. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?. Pediatrics 118 (2006) e1523-e1529
13. Férec C., Verlingue C., Guillermit H., Quéré I., Raguénès O., Feigelson J., et al. Genotype analysis of adult cystic fibrosis patients. Hum Mol Genet 2 (1993) 1557-1560
14. Macek Jr. M., Macek Sr. M., Krebsová A., Nash E., Hamosh A., Reis A., et al. Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival. Hum Genet 99 (1997) 565-572
15. Southern K.W., Munck A., Pollitt R., Travert G., Zanolla L., Dankert-Roelse J., et al. On behalf of the ECFS CF Neonatal Screening Working Group. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 6 (2007) 57-65
16. Fialová L., Pavlík Z., and Vereš P. Fertility decline in Czechoslovakia during the last two centuries. Popul Stud 44 (1990) 89-106
17. Hale J.E., Parad R.B., and Comeau A.M. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med 358 (2008) 973-974
18. Muller F., Simon-Bouy B., Girodon E., Monnier N., Malinge M.C., and Serre J.L. French Collaborative Group. Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases. Am J Med Genet 110 (2002) 109-115
19. Scotet V., Audrézet M.P., Roussey M., Rault G., Blayau M., De Braekeleer M., et al. Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France. Hum Genet 113 (2003) 280-285
20. Daigneault J., Aubin G., Simard F., and De Braekeleer M. Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada. J Med Genet 9 (1991) 613-614