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

MARIA D POLITIS ; MARK A CANFIELD; HERMIEN E K DE WALLE; MIRIAM GATT; KÄRIN KALLÉN ; JORGE LOPEZ-CAMELO; ANNA PIERINI; ELENA SZABOVA; IGNACIO ZARANTE ; PIERPAOLO MASTROIACOVO; JORIEKE E H BERGMAN; EVA BERMEJO-SÁNCHEZ; SAEED DASTGIRI ; AMY NANCE; PAULA HURTADO-VILLA; NATHALIE LELONG; MARGERY MORGAN; ANTONIN ÍPEK; WLADIMIR WERTELECKI ; VIJAYA KANCHERLA ; WENDY N NEMBHARD ; JAZMÍN ARTEAGA-VÁZQUEZ ; JANET D CRAGAN ; MARCIA L FELDKAMP; BORIS GROISMAN; DANIELLE LANDAU ; LAURA MARTINEZ; ANKE RISSMANN; GIOVANNA TAGLIABUE ; MARIAN K BAKKER

Birth Defects Research

John Wiley and Sons Inc

Año: 2020 vol. 112 p. 1787 - 1801

Background: Omphalocele is the second most common abdominal birthdefect and often occurs with other structural and genetic defects. The objectiveof 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 surveillancesystems in 18 countries who are members of the International Clearinghousefor Birth Defects Surveillance and Research that submitted data on casesascertained from 2000 through 2012, approximately 16 million pregnancieswere surveyed that resulted in live births, stillbirths, or elective terminations ofpregnancy for fetal anomalies (ETOPFA) and cases with omphalocele wereincluded. 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 cumulativemortality 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 inclusionor exclusion of ETOPFA.Conclusions: The prevalence of omphalocele showed no temporal changefrom 2000?2012. Approximately one-third of children with omphalocele didnot survive early childhood with most deaths occurring in the neonatal period.