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Omphalocele

Authors
Courtney D Stephenson, DO
Charles J Lockwood, MD, MHCM
Andrew P MacKenzie, MD
Section Editors
Louise Wilkins-Haug, MD, PhD
Deborah Levine, MD
Deputy Editor
Vanessa A Barss, MD, FACOG

INTRODUCTION

An omphalocele is a midline abdominal wall defect of variable size, covered by a membrane of amnion and peritoneum with Wharton’s jelly between the two layers, and containing abdominal contents. The defect occurs at the base of the umbilical cord, with the cord/umbilical vessels inserting at the apex of the omphalocele sac (picture 1).

PATHOLOGY/PATHOGENESIS

Fetal abdominal wall defects result from disturbances in organogenesis during the embryonic period. During the fourth to fifth week of development, the flat embryonic disk folds in four directions and/or planes: cephalic, caudal, and right and left lateral. Each fold converges at the site of the umbilicus, thus obliterating the extraembryonic coelom. The lateral folds form the lateral portions of the abdominal wall, and the cephalic and caudal folds make up the epigastrium and hypogastrium [1,2]. Rapid growth of the intestines and liver also occurs at this time. During the sixth week of development (or eight weeks from the last menstrual period), the abdominal cavity temporarily becomes too small to accommodate all of its contents, resulting in protrusion of the intestines into the residual extraembryonic coelom at the base of the umbilical cord. This temporary herniation is called physiologic midgut herniation and is sonographically evident the 9th to 11th postmenstrual weeks (up to crown rump length 45 mm) (image 1). Reduction of the hernia occurs by the 12th postmenstrual week; thus beyond the 12th week a midgut herniation is no longer physiological [3].

A simple midline omphalocele develops if the extraembryonic gut fails to return to the abdominal cavity and undergo the obligatory 270 degree counterclockwise rotation back into the abdomen [1,2,4]. For this reason, omphalocele is considered a rotational anomaly, covered by the two-layer amnionic-peritoneal membrane, into which the umbilical cord inserts, and usually identified only after 10 postmenstrual weeks. Gastroschisis is truly an abdominal wall hernia defect and occurs much earlier in organogenesis (postmenstrual weeks six to eight).  

In contrast to fetal bowel, the liver does not undergo physiologic migration outside of the abdominal cavity during development. Therefore, the liver is never present in physiologic midgut herniation. If the lateral folds fail to close, a large abdominal wall defect is created through which the abdominal cavity contents, including the liver, can herniate [1,2]. The result is a liver-containing omphalocele.

Omphaloceles are associated with a high frequency of fetal aneuploidy when they contain only small bowel (ie, the liver is intracorporeal) [5-7]. An extracorporeal liver often, but not invariably, is associated with a normal fetal karyotype [7,8]. (See 'Associated abnormalities and syndromes' below.)

                 

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Literature review current through: Nov 2016. | This topic last updated: Wed Nov 30 00:00:00 GMT+00:00 2016.
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