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


Journal

Birth defects research
ISSN: 2472-1727
Titre abrégé: Birth Defects Res
Pays: United States
ID NLM: 101701004

Informations de publication

Date de publication:
12 2020
Historique:
received: 02 07 2020
revised: 30 09 2020
accepted: 05 10 2020
pubmed: 18 10 2020
medline: 19 8 2021
entrez: 17 10 2020
Statut: ppublish

Résumé

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. 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. 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. 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.

Sections du résumé

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.

Identifiants

pubmed: 33067932
doi: 10.1002/bdr2.1822
pmc: PMC7722785
mid: NIHMS1597106
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1787-1801

Subventions

Organisme : NCBDD CDC HHS
ID : 5U01DD000491
Pays : United States
Organisme : Instituto de Salud Carlos III
Organisme : Arkansas Biosciences Institute
ID : 037062
Organisme : Czech Ministry of Health
ID : AZV 17-29622A
Organisme : Intramural CDC HHS
ID : CC999999
Pays : United States
Organisme : Ministry of Science and Innovation, of Spain
Organisme : Fundación 1000 sobre Defectos Congénitos, of Spain
Organisme : Direzione Diritti di cittadinanza e coesione sociale-Regione Toscana
Organisme : Dutch Ministry of Welfare, Health and Sports
Organisme : Dutch Ministry of Welfare, Health and Sports.
Organisme : Public Health Wales

Informations de copyright

© 2020 Wiley Periodicals LLC.

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Auteurs

Wendy N Nembhard (WN)

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.

Jorieke E H Bergman (JEH)

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

Maria D Politis (MD)

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.

Jazmín Arteaga-Vázquez (J)

RYVEMCE (Mexican Registry and Epidemiological Surveillance of Congenital Malformations), Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Eva Bermejo-Sánchez (E)

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.

Mark A Canfield (MA)

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

Janet D Cragan (JD)

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

Saeed Dastgiri (S)

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

Hermien E K de Walle (HEK)

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

Marcia L Feldkamp (ML)

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

Amy Nance (A)

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.

Miriam Gatt (M)

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

Boris Groisman (B)

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.

Paula Hurtado-Villa (P)

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

Kärin Kallén (K)

National Board of Health and Welfare, Stockholm, Sweden.

Danielle Landau (D)

Department of Neonatology, Soroka Medical Center, Beer-Sheva, Israel.

Nathalie Lelong (N)

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.

Jorge Lopez-Camelo (J)

ECLAMC, Center for Medical Education and Clinical Research (CEMIC-CONICET), Buenos Aires, Argentina.

Laura Martinez (L)

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

Margery Morgan (M)

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

Anna Pierini (A)

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

Anke Rissmann (A)

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

Antonin Šípek (A)

Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic.

Elena Szabova (E)

Slovak Teratologic Information Centre (FPH), Slovak Medical University, Bratislava, Slovakia.

Giovanna Tagliabue (G)

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

Wladimir Wertelecki (W)

Omni-Net for Children International Charitable Fund, Rivne, Ukraine.

Ignacio Zarante (I)

Human Genetics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.

Marian K Bakker (MK)

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

Vijaya Kancherla (V)

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

Pierpaolo Mastroiacovo (P)

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

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