Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract

Authors: A. Šípek 1,2,3;  V. Gregor 1,2,4;  J. Horáček 1,5;  A. Šípek jr. 1,6;  J. Klaschka 7;  M. Malý 7,8
Authors‘ workplace: Oddělení lékařské genetiky, Thomayerova nemocnice, Praha 1;  Sanatorium Pronatal s. r. o., Praha 2;  Ústav obecné biologie a genetiky, 3. LF UK, Praha 3;  Katedra lékařské genetiky, Institut postgraduálního vzdělávání ve zdravotnictví, Praha 4;  Gennet, Praha 5;  Ústav biologie a lékařské genetiky, 1. LF UK a Všeobecná fakultní nemocnice, Praha 6;  Ústav informatiky AV ČR, v. v. i., Praha 7;  Státní zdravotní ústav, Praha 8
Published in: Epidemiol. Mikrobiol. Imunol. 64, 2015, č. 1, s. 47-53
Category: Review articles, original papers, case report


Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994–2009.

Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic.

Material and methods:
Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. The analysis was carried out for the entire Czech Republic, based on the data from 1994 to 2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres and laboratories in the Czech Republic. This study analyzed the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies. More detailed analysis was carried out for the following diagnoses: anencephaly, spina bifida, encephalocoele, congenital hydrocephalus, omphalocoele, gastroschisis, oesophageal atresia and stenosis, anorectal anomalies, and diaphragmatic hernia. Prevalence trends were analysed using Poisson regression.

In 2009, a total of 118 348 live births were recorded in the Czech Republic, 60 368 boys and 57 980 girls. Of this total, 4 653, i.e. 2 745 boys and 1 908 girls, were diagnosed with congenital anomalies. In 2007–2009, the total of life births with congenital anomalies ranged between 4.6 and 4.8 thousand per year. The respective ranges in this three-year period were in the order of 2.7 and 2.8 thousand per year for boys and 1.9 thousand per year for girls. The prevalence of postnatally diagnosed anencephaly was minimal, as most cases were diagnosed prenatally, and the data did not vary significantly. The prevalence of postnatally diagnosed cases remained at the same level. The effectiveness of the prenatal diagnosis of spina bifida increased and thus the prevalence of postnatally diagnosed cases decreased. The prevalence of prenatally diagnosed encephalocoele increased and that of postnatally diagnosed cases varied between years, with no clear trend. The prevalence of omphalocoele varied for both prenatally and postnatally diagnosed cases; nevertheless, the effectiveness of prenatal diagnosis of this defect increases. The prevalence of gastroschisis remained unchanged, but the number of live births with this diagnosis showed a non-significant upward trend. If the trend reflects the real situation, it could be a result of a changed approach to prenatal diagnosis due to advances in corrective surgery of this defect. The prevalence of live births with congenital hydrocephalus showed a downward trend in the second half of the period 1994–2009 thanks to the improved diagnosis. The prevalence rates of live births with congenital esophageal and anorectal anomalies were slightly increasing. The prevalence of congenital diaphragmatic hernia varied between years but the overall prevalence appeared to be slightly increasing.

The prevalence of some congenital anomalies (spina bifida, omphalocoele, and congenital hydrocephalus) showed a downward trend over the study period 1994–2009, mainly as a result of effective prenatal diagnosis. The prevalence of other congenital anomalies such as anencephaly or encephalocoele remained unchanged in live births. As for anencephaly, postnatally diagnosed cases were rare as the prenatal diagnosis was close to 100 %. The trend in encephalocoele is explained by the low incidence of this diagnosis in the population. The third group of postnatally diagnosed congenital anomalies such as gastroschisis or esophageal and anorectal anomalies were on the rise. As for gastroschisis, the reason was the changed approach to prenatal diagnosis due to good prognosis of this operable defect. The prevalence of congenital esophageal and anorectal anomalies varied between years, with a slowly increasing trend, similarly to diaphragmatic hernia.

Key words:
neural tube anomalies – congenital hydrocehalus – abdominal wall anomalies – congenital esophageal anomalies – anorectal anomalies – congenital diaphragmatic hernia


1. Ali K, Grigoratos D, Cornelius V, Davenport M, Nicolaides K, Greenough A. Outcome of CDH infants following fetoscopic tracheal occlusion - influence of premature delivery. J Pediatr Surg, 2013;48(9):1831–1836.

2. Balayla J, Abenhaim HA. Prevalence, predictors and outcomes of congenital diaphragmatic hernia: a population-based study of 32 million births in the United States. J Matern Fetal Neonatal Med, 2013 [Epub ahead of print]

3. Bebbington M, Victoria T, Danzer E, Moldenhauer J, Khalek N, Johnson M, Hedrick H, Adzick NS. Comparison of Ultrasound and MRI parameters in predicting survival in isolated left-sided Congenital Diaphragmatic Hernia: What works best? Ultrasound Obstet Gynecol, 2013 [Epub ahead of print]

4. Colvin J, Bower C, Dickinson JE, Sokol J. Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics, 2005;116(3):356–363.

5. Copp AJ, Stanier P, Greene ND. Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol, 2013;12(8):799–810.

5. Cragan JD, Roberts HE, Edmonds LD, Khoury MJ, Kirby RS, Shaw GM, Velie EM, Merz RD, Forrester MB, Williamson RA, Krishnamurti DS, Stevenson RE, Dean JH. Surveillance for anencephaly and spina bifida and the impact of prenatal diagnosis – United States, 1985–1994. MMWR CDC Surveill Summ, 1995;44(4):1–13.

6. Dugoff L. Ultrasound diagnosis of structural abnormalities in the first trimester. Prenat Diagn, 2002;22(4):316–320.

7. Glinianaia SV, Embleton ND, Rankin J. A systematic review of studies of quality of life in children and adults with selected congenital anomalies. Birth Defects Res A Clin Mol Teratol, 2012;94(7):511–520.

8. Grisaru-Granovsky S, Rabinowitz R, Ioscovich A, Elstein D, Schimmel MS. Congenital diaphragmatic hernia: review of the literature in reflection of unresolved dilemmas. Acta Paediatr, 2009;98(12):1874–1881.

9. Christison-Lagay ER, Kelleher CM, Langer JC. Neonatal abdominal wall defects. Semin Fetal Neonatal Med, 2011;16(3):164–172.

10. Johnson CY, Honein MA, Dana Flanders W, Howards PP, Oakley GP Jr., Rasmussen SA. Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature. Birth Defects Res A Clin Mol Teratol, 2012;94(11):857–863.

11. Katorza E, Achiron R. Early pregnancy scanning for fetal anomalies – the new standard? Clin Obstet Gynecol, 2012;55(1):199–216.

12. Krause H, Pötzsch S, Hass HJ, Gerloff C, Jaekel A, Avenarius S, Kroker S. Congenital abdominal wall defects – an analysis of prevalence and operative management by means of gastroschisis and omphalocele. Zentralbl Chir, 2009;134(6):524–531.

13. La Placa S, Giuffrè M, Gangemi A, Di Noto S, Matina F, Nociforo F, Antona V, Di Pace MR, Piccione M, Corsello G. Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype? Ital J Pediatr, 2013;39:45.

14. Michaud L, Coutenier F, Podevin G, Bonnard A, Becmeur F, Khen-Dunlop N, Auber F, Maurel A, Gelas T, Dassonville M, Borderon C, Dabadie A, Weil D, Piolat C, Breton A, Djeddi D, Morali A, Bastiani F, Lamireau T, Gottrand F. Characteristics and management of congenital esophageal stenosis: findings from a multicenter study. Orphanet J Rare Dis, 2013;8(1):186. [Epub ahead of print]

15. Nazer J, Hubner ME, Valenzuela P, Cifuentes L. Anorectal congenital malformations and their preferential associations. Experience of the Clinical Hospital of the University of Chile. Period 1979-1999. Rev Med Chil, 2000;128(5):519–525.

16. Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr, 2000;30(10):313–332.

17. Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom (Kyoto), 2006;46(2):55–67.

18. Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis, 2011;6:56.

19. Weir E. Congenital abdominal wall defects. Canadian Medical Association Journal, 2003;169(8):809–810.

20. Wilson RD, Johnson MP. Congenital abdominal wall defects: an update. Fetal Diagn Ther, 2004;19(5):385–398.

21. Wynn J, Aspelund G, Zygmunt A, Stolar CJ, Mychaliska G, Butcher J, Lim FY, Gratton T, Potoka D, Brennan K, Azarow K, Jackson B, Needelman H, Crombleholme T, Zhang Y, Duong J, Arkovitz MS, Chung WK, Farkouh C. Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study. J Pediatr Surg, 2013;48(10):1995–2004.

Hygiene and epidemiology Medical virology Clinical microbiology

Article was published in

Epidemiology, Microbiology, Immunology

Issue 1

2015 Issue 1

Most read in this issue

This topic is also in:

Forgotten password

Don‘t have an account?  Create new account

Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.


Don‘t have an account?  Create new account