Omphalocele: national current birth prevalence and survival

Anna Fogelström,Cecilia Caldeman,Anna Löf Granström,Jenny Oddsberg,Carmen Mesas Burgos

doi:10.1007/s00383-021-04978-z

Abstract

PurposeThe increase in prenatal diagnosis together with the high rates of associated anomalies in omphalocele has led to increased rates of termination of pregnancies. The aim of this study was to examine the national Swedish birth prevalence and survival rates among these patients.MethodsThis study is based on a nationwide population-based cohort of all children born in Sweden between 1/1/1997 and 31/12/2016. All omphalocele cases were identified though the Swedish National Patient Register and the Swedish Medical Birth Register. Outcome of malformations and deaths were retrieved from the Swedish Birth Defects Register and the Swedish Causes of Death Register.ResultsThe study included 207 cases of omphalocele (42% females). The birth prevalence for omphalocele was 1/10,000 live births. About 62% of the cases had associated malformations and/or genetic disorders; most common was ventricular septal defect. The mortality within the first year was 13%. The rate of termination of pregnancy was 59%.ConclusionThe national birth prevalence for omphalocele in Sweden is 1/10,000 newborn, with high termination rates. Over half of the pregnancies with prenatally diagnosed omphalocele will be terminated. Among those who continue the pregnancy, 1-year survival rates are high.Type of studyNational register studyLevel of evidenceIII.

Highlights

Omphalocele is one of the most common congenital abdominal wall defects, still considered a rare diagnosis
The aim of this study was to explore the current birth prevalence, associated anomalies and survival rates for patients born with omphalocele at a populationbased level
Between the years 1999 and 2016, a total of 449 pregnancies had a prenatal diagnosis of omphalocele, and 263 (59%) opted for termination (Fig. 1)

Summary

Introduction

Omphalocele is one of the most common congenital abdominal wall defects, still considered a rare diagnosis. It occurs in 1–3.8/10,000 pregnancies [1,2,3,4,5,6]. Organs protrude through a midline abdominal wall defect together with the umbilical cord. The size of the defect differs and the extent of organs that protrude. Defects larger than 5 cm, containing intestines and most of the liver and sometimes stomach, uterus, ovaries or spleen, are often referred to as giant omphalocele. There are different theories explaining the failure of mesodermal closure when forming the abdominal wall that leaves a larger defect than the umbilical ring [7]

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