BACKGROUND: Omphalocele is the second most common abdominal birth defect and often occurs with other structural and genetic defects. The objective of this study was to determine omphalocele prevalence, time trends, and mortality during early childhood, by geographical region, and the presence of associated anomalies. METHODS: We conducted a retrospective study with 23 birth defect surveillance systems in 18 countries who are members of the International Clearinghouse for Birth Defects Surveillance and Research that submitted data on cases ascertained from 2000 through 2012, approximately 16 million pregnancies were surveyed that resulted in live births, stillbirths, or elective terminations of pregnancy for fetal anomalies (ETOPFA) and cases with omphalocele were included. Overall prevalence and mortality rates for specific ages were calculated (day of birth, neonatal, infant, and early childhood). We used Kaplan-Meier estimates with 95% confidence intervals (CI) to calculate cumulative mortality and joinpoint regression for time trend analyses. RESULTS: The prevalence of omphalocele was 2.6 per 10,000 births (95% CI: 2.5, 2.7) and showed no temporal change from 2000-2012 (average annual percent change = -0.19%, p = .52). The overall mortality rate was 32.1% (95% CI: 30.2, 34.0). Most deaths occurred during the neonatal period and among children with multiple anomalies or syndromic omphalocele. Prevalence and mortality varied by registry type (e.g., hospital- vs. population-based) and inclusion or exclusion of ETOPFA. CONCLUSIONS: The prevalence of omphalocele showed no temporal change from 2000-2012. Approximately one-third of children with omphalocele did not survive early childhood with most deaths occurring in the neonatal period.

Arkansas Center for Birth Defects Research and Prevention Fay W Boozman College of Public Health Department of Epidemiology University of Arkansas for Medical Sciences Little Rock Arkansas USA

Arkansas Center for Birth Defects Research and Prevention Fay W Boozman College of Public Health Department of Epidemiology University of Arkansas for Medical Sciences Little Rock Little Rock Arkansas USA

Arkansas Reproductive Health Monitoring System Arkansas Children's Hospital Little Rock Arkansas USA

Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Austin Texas USA

Department of Basic Sciences of Health School of Health Pontificia Universidad Javeriana Cali Cali Colombia

Department of Epidemiology Emory University Rollins School of Public Health Atlanta Georgia USA

Department of Genetics EUROCAT Northern Netherlands University of Groningen University Medical Center Groningen Groningen The Netherlands

Department of Medical Genetics Thomayer Hospital Prague Czech Republic

Department of Neonatology Soroka Medical Center Beer Sheva Israel

Division of Medical Genetics Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA

ECEMC Instituto de Salud Carlos 3 Madrid Spain

ECLAMC Center for Medical Education and Clinical Research Buenos Aires Argentina

Genetics Department Hospital Universitario Dr Jose E Gonzalez Universidad Autonóma de Nuevo León Nuevo León Mexico

Health Services Management Research Centre Tabriz University of Medical Sciences Tabriz Iran

Human Genetics Institute Pontificia Universidad Javeriana Bogotá Colombia

Institute of Clinical Physiology National Research Council Fondazione Toscana Gabriele Monasterio Tuscany Registry of Congenital Defects Pisa Italy

International Center on Birth Defects International Clearinghouse for Birth Defects Surveillance and Research Rome Italy

Lombardy Congenital Anomalies Registry Cancer Registry Unit Fondazione IRCCS Istituto Nazionale dei tumori Milan Italy

Malformation Monitoring Centre Saxony Anhalt Medical Faculty Otto von Guericke University Magdeburg Germany

Malta Congenital Anomalies Registry Directorate for Health Information and Research Valletta Malta

Metropolitan Atlanta Congenital Defects Program National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta Georgia USA

National Board of Health and Welfare Stockholm Sweden

National Network of Congenital Anomalies of Argentina National Center of Medical Genetics National Administration of Laboratories and Health Institutes National Ministry of Health and Social Development Buenos Aires Argentina

Omni Net for Children International Charitable Fund Rivne Ukraine

REMAPAR Paris Registry of Congenital Malformations Inserm UMR 1153 Obstetrical Perinatal and Pediatric Epidemiology Research Team Center for Epidemiology and Statistics Sorbonne Paris Cité DHU Risks in Pregnancy Paris Descartes University Paris France

RYVEMCE Department of Genetics Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico

Slovak Teratologic Information Centre Slovak Medical University Bratislava Slovakia

The Congenital Anomaly Register and Information Service for Wales Singleton Hospital Swansea Wales UK

Utah Birth Defect Network Bureau of Children with Special Health Care Needs Division of Family Health and Preparedness Utah Department of Health Salt Lake City Utah USA

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