Characteristics and outcome of 90 cases of fetal omphalocele
Characteristics and outcome of 90 cases of fetal omphalocele
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DOI：
10.1002/uog.1978
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发表时间：
2005-10-01
影响因子：
7.1
通讯作者：
Eik-Nes, SH
中科院分区：
文献类型：
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作者：
Brantberg, A;Blaas, HGK;Eik-Nes, SH
目的本研究的目的是描述一个病例系列胎儿脐膨出的结局。方法对1985年1月至2004年1月在国家胎儿医学中心（NCFM）进行产前诊断的脐膨出胎儿90例进行随访。随访时间从6个月到17年不等。根据脐膨出在腹壁上的位置可分为上腹部型、中央型和下腹部型。结果腹部中心脐膨出58例，腹部上脐膨出32例。中部40158例（69%）和上腹部脐膨出4/32例（12.5%）存在核型异常。18三体是脐膨出最常见的异常。在核型正常的胎儿中，89%的中腹部和71%的上腹部有其他异常。38例（66%）中脐膨出胎儿终止妊娠，12例（21%）在妊娠期间或分娩后死亡。11例（34%）上腹部脐膨出胎儿终止妊娠，8例（25%）在妊娠期间或分娩后死亡。自确诊起随访90例，21例（23%）存活。在8例中枢性脐膨出幸存者中，只有2例被认为是健康的，而6例有其他异常和/或发育严重受损。在13名幸存的上腹部脐膨出患者中，6人被认为是健康的，7人有其他异常和/或严重损伤。结论胎儿中央脐膨出和上腹部脐膨出可能是不同的实体：中央脐膨出与核型异常的相关性（69%）高于上腹部脐膨出（12.5%）。无论脐膨出类型如何，脐膨出胎儿的结局都很差，目前90例胎儿中只有8例（9%）健康存活。结果强调了鉴别那些具有潜在良好预后和有利结果的胎儿和那些可能有致命结果的胎儿的重要性。版权所有(c) 2005 ISUOG。约翰·威利父子有限公司出版。
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 andjanuary 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 40158 (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 bad 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 ompbalocele, only two were considered healthy while six bad 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 ompbalocele 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 (c) 2005 ISUOG. Published by John Wiley & Sons, Ltd.