A multi-country study of prevalence and early childhood mortality among children with omphalocele

Wendy N Nembhard^{1

2}, Jorieke E H Bergman³, Maria D Politis⁴, Jazmín Arteaga-Vázquez⁵, Eva Bermejo-Sánchez⁶, Mark A Canfield⁷, Janet D Cragan⁸, Saeed Dastgiri⁹, Hermien E K de Walle³, Marcia L Feldkamp¹⁰, Amy Nance¹¹, Miriam Gatt¹², Boris Groisman¹³, Paula Hurtado-Villa¹⁴, Kärin Kallén¹⁵, Danielle Landau¹⁶, Nathalie Lelong¹⁷, Jorge Lopez-Camelo¹⁸, Laura Martinez¹⁹, Margery Morgan²⁰, Anna Pierini²¹, Anke Rissmann²², Antonin Šípek²³, Elena Szabova²⁴, Giovanna Tagliabue²⁵, Wladimir Wertelecki²⁶, Ignacio Zarante²⁷, Marian K Bakker³, Vijaya Kancherla²⁸, Pierpaolo Mastroiacovo²⁹

Affiliations

¹ 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.
² Arkansas Reproductive Health Monitoring System, Arkansas Children's Hospital, Little Rock, Arkansas, USA.
³ Department of Genetics, EUROCAT Northern Netherlands, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
⁴ 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.
⁵ RYVEMCE (Mexican Registry and Epidemiological Surveillance of Congenital Malformations), Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
⁶ ECEMC (Spanish Collaborative Study of Congenital Malformations) and ECEMC's Clinical Network, Research Unit on Congenital Anomalies, Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.
⁷ Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
⁸ Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
⁹ Health Services Management Research Centre, Tabriz University of Medical Sciences, Tabriz, Iran.
¹⁰ Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
¹¹ 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.
¹² Malta Congenital Anomalies Registry, Directorate for Health Information and Research, Valletta, Malta.
¹³ National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes, National Ministry of Health and Social Development, Buenos Aires, Argentina.
¹⁴ Department of Basic Sciences of Health, School of Health, Pontificia Universidad Javeriana Cali, Cali, Colombia.
¹⁵ National Board of Health and Welfare, Stockholm, Sweden.
¹⁶ Department of Neonatology, Soroka Medical Center, Beer-Sheva, Israel.
¹⁷ REMAPAR, Paris Registry of Congenital Malformations, Inserm UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epopé), Center for Epidemiology and Statistics Sorbonne Paris Cité, DHU Risks in Pregnancy, Paris Descartes University, Paris, France.
¹⁸ ECLAMC, Center for Medical Education and Clinical Research (CEMIC-CONICET), Buenos Aires, Argentina.
¹⁹ Genetics Department, Hospital Universitario Dr Jose E. Gonzalez, Universidad Autonóma de Nuevo León, Nuevo León, Mexico.
²⁰ The Congenital Anomaly Register and Information Service for Wales, Singleton Hospital, Swansea, Wales, UK.
²¹ Institute of Clinical Physiology, National Research Council/Fondazione Toscana Gabriele Monasterio, Tuscany Registry of Congenital Defects, Pisa, Italy.
²² Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty, Otto-von-Guericke University, Magdeburg, Germany.
²³ Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic.
²⁴ Slovak Teratologic Information Centre (FPH), Slovak Medical University, Bratislava, Slovakia.
²⁵ Lombardy Congenital Anomalies Registry, Cancer Registry Unit, Fondazione IRCCS, Istituto Nazionale dei tumori, Milan, Italy.
²⁶ Omni-Net for Children International Charitable Fund, Rivne, Ukraine.
²⁷ Human Genetics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.
²⁸ Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.
²⁹ International Center on Birth Defects, International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy.

PMID: 33067932
PMCID: PMC7722785
DOI: 10.1002/bdr2.1822

A multi-country study of prevalence and early childhood mortality among children with omphalocele

Wendy N Nembhard et al. Birth Defects Res. 2020 Dec.

. 2020 Dec;112(20):1787-1801.

doi: 10.1002/bdr2.1822. Epub 2020 Oct 17.

Authors

Affiliations

¹ 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.
² Arkansas Reproductive Health Monitoring System, Arkansas Children's Hospital, Little Rock, Arkansas, USA.
³ Department of Genetics, EUROCAT Northern Netherlands, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
⁴ 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.
⁵ RYVEMCE (Mexican Registry and Epidemiological Surveillance of Congenital Malformations), Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
⁶ ECEMC (Spanish Collaborative Study of Congenital Malformations) and ECEMC's Clinical Network, Research Unit on Congenital Anomalies, Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.
⁷ Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
⁸ Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
⁹ Health Services Management Research Centre, Tabriz University of Medical Sciences, Tabriz, Iran.
¹⁰ Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
¹¹ 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.
¹² Malta Congenital Anomalies Registry, Directorate for Health Information and Research, Valletta, Malta.
¹³ National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes, National Ministry of Health and Social Development, Buenos Aires, Argentina.
¹⁴ Department of Basic Sciences of Health, School of Health, Pontificia Universidad Javeriana Cali, Cali, Colombia.
¹⁵ National Board of Health and Welfare, Stockholm, Sweden.
¹⁶ Department of Neonatology, Soroka Medical Center, Beer-Sheva, Israel.
¹⁷ REMAPAR, Paris Registry of Congenital Malformations, Inserm UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epopé), Center for Epidemiology and Statistics Sorbonne Paris Cité, DHU Risks in Pregnancy, Paris Descartes University, Paris, France.
¹⁸ ECLAMC, Center for Medical Education and Clinical Research (CEMIC-CONICET), Buenos Aires, Argentina.
¹⁹ Genetics Department, Hospital Universitario Dr Jose E. Gonzalez, Universidad Autonóma de Nuevo León, Nuevo León, Mexico.
²⁰ The Congenital Anomaly Register and Information Service for Wales, Singleton Hospital, Swansea, Wales, UK.
²¹ Institute of Clinical Physiology, National Research Council/Fondazione Toscana Gabriele Monasterio, Tuscany Registry of Congenital Defects, Pisa, Italy.
²² Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty, Otto-von-Guericke University, Magdeburg, Germany.
²³ Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic.
²⁴ Slovak Teratologic Information Centre (FPH), Slovak Medical University, Bratislava, Slovakia.
²⁵ Lombardy Congenital Anomalies Registry, Cancer Registry Unit, Fondazione IRCCS, Istituto Nazionale dei tumori, Milan, Italy.
²⁶ Omni-Net for Children International Charitable Fund, Rivne, Ukraine.
²⁷ Human Genetics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.
²⁸ Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.
²⁹ International Center on Birth Defects, International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy.

PMID: 33067932
PMCID: PMC7722785
DOI: 10.1002/bdr2.1822

Abstract

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.

Keywords: mortality; omphalocele; prevalence; registry; surveillance.

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Figures

**Figure 1.**
Kaplan-Meier survival curves up to age five years for all liveborn cases with omphalocele in ten birth defects surveillance systems with linkage to death certificates by continent, 2000-2012 1a: North America 1b Europe: Czech, Italy Lombardy, Italy Tuscany, Malta, Sweden, UK Wales

**Figure 2.**
Kaplan-Meier survival curves up to age five for isolated, multiple congenital anomalies (MCA) and syndromic omphalocele in six surveillance systems with available data, 2000-2012 2a Isolated Cases: Italy Lombardy, Italy Tuscany, Sweden, UK Wales, USA Utah 2b Omphalocele with Multiple Congenital Anomalies: Italy Lombardy, Italy Tuscany, Sweden, UK Wales, USA Utah 2c. Syndromic omphalocele: Czech Republic¹, Italy Lombardy, Italy Tuscany, Sweden, UK Wales, USA Utah ¹Czech Republic only provided data on syndromic cases

See this image and copyright information in PMC

References

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A multi-country study of prevalence and early childhood mortality among children with omphalocele

Affiliations

A multi-country study of prevalence and early childhood mortality among children with omphalocele

Authors

Affiliations

Abstract

Figures

References

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MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources