Characteristics and outcome of 90 cases of fetal omphalocele

Authors: Brantberg, A.¹; Blaas, H.-G. K.¹; Haugen, S. E.²; Eik-Nes, S. H.¹

Source: Ultrasound in Obstetrics and Gynecology, Volume 26, Number 5, October 2005 , pp. 527-537(11)

Publisher: John Wiley & Sons, Ltd.

Abstract:

Objective

The aim of this study was to describe the outcome of a case series of fetuses with omphalocele.

Methods

Ninety fetuses with omphalocele at the National Center for Fetal Medicine (NCFM) between January 1985 and January 2004 were followed from the time of prenatal diagnosis. Follow-up times ranged from 6 months to 17 years. Omphaloceles were subdivided into epigastric, central and hypogastric types based on their location on the abdominal wall.

Results

There were 58 central and 32 epigastric omphaloceles. Abnormal karyotype was found in 40/58 (69%) of the central and in 4/32 (12.5%) of the epigastric omphaloceles. Trisomy 18 was the most frequent abnormality associated with omphalocele. Among the fetuses with normal karyotype, 89% of the central and 71% of the epigastric cases had other anomalies. 38 (66%) of the fetuses with central omphalocele were terminated and 12 (21%) died during pregnancy or after delivery. 11 (34%) of the fetuses with epigastric omphalocele were terminated and eight (25%) died during pregnancy or after delivery. Of the 90 cases followed from the time of diagnosis there were 21 (23%) survivals. Of eight survivals with central omphalocele, only two were considered healthy while six had other anomalies and/or substantially impaired development. Of 13 survivals with epigastric omphalocele, six were considered healthy and seven had other anomalies and/or substantial impairment.

Conclusions

Fetal central and epigastric omphaloceles may be different entities: central omphaloceles are more strongly associated with abnormal karyotype (69%) than are epigastric omphaloceles (12.5%). The outcome of fetuses with omphalocele is poor irrespective of the type of omphalocele, with only eight of the 90 (9%) being alive and healthy at present. The results emphasize the importance of identifying both those fetuses with a potentially good prognosis and favorable outcome and those which are likely to have a fatal outcome. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.

Keywords: karyotype; omphalocele; prenatal diagnosis; ultrasound

Document Type: Research article

DOI: http://dx.doi.org/10.1002/uog.1978

Affiliations: 1: National Center for Fetal Medicine, Department of Obstetrics and Gynecology, Trondheim University Hospital, Trondheim, Norway 2: Department of Pediatric Surgery, St Olav's Hospital, Trondheim University Hospital, Trondheim, Norway

Publication date: 2005-10-01

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• In this Subject: Obstetrics & Gynecology ,  Radiology & Imaging
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