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 Res. 2020 Dec;112(20):1787-1801. doi: 10.1002/bdr2.1822. Epub 2020 Oct 17.
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.
脐膨出是第二常见的腹部出生缺陷，常与其他结构和遗传缺陷同时发生。本研究的目的是通过地理区域和相关异常情况来确定脐膨出的患病率、时间趋势和儿童早期死亡率。
我们对 18 个国家的 23 个出生缺陷监测系统进行了回顾性研究，这些国家是国际出生缺陷监测和研究信息交换所的成员，他们提交了 2000 年至 2012 年期间确定的病例数据，大约有 1600 万例妊娠导致活产、死产或胎儿异常选择性终止妊娠（ETOPFA），并包括脐膨出病例。计算了特定年龄段的总体患病率和死亡率（出生日、新生儿、婴儿和幼儿期）。我们使用 Kaplan-Meier 估计和 95%置信区间（CI）计算累积死亡率，并使用 joinpoint 回归进行时间趋势分析。
脐膨出的患病率为每 10000 例活产 2.6 例（95%CI：2.5，2.7），2000-2012 年无时间变化（平均年百分比变化=-0.19%，p=0.52）。总死亡率为 32.1%（95%CI：30.2，34.0）。大多数死亡发生在新生儿期和有多种异常或综合征性脐膨出的儿童中。登记类型（例如，医院或人群为基础）以及是否包括 ETOPFA 对患病率和死亡率都有影响。
2000-2012 年脐膨出的患病率没有时间变化。大约三分之一的脐膨出患儿未能存活到幼儿期，大多数死亡发生在新生儿期。
