Brantberg A, Blaas H-G K, Haugen S E, Eik-Nes S H
National Center for Fetal Medicine, Department of Obstetrics and Gynecology, Trondheim University Hospital, Trondheim, Norway.
Ultrasound Obstet Gynecol. 2005 Oct;26(5):527-37. doi: 10.1002/uog.1978.
The aim of this study was to describe the outcome of a case series of fetuses with omphalocele.
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.
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.
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.
本研究旨在描述一系列脐膨出胎儿的结局。
1985年1月至2004年1月期间，在国家胎儿医学中心（NCFM）对90例脐膨出胎儿进行了产前诊断后的随访。随访时间从6个月至17年不等。根据脐膨出在腹壁上的位置，将其分为上腹部型、中央型和下腹部型。
有58例中央型和32例上腹部型脐膨出。在中央型脐膨出中，40/58（69%）发现染色体核型异常，在上腹部型脐膨出中，4/32（12.5%）发现染色体核型异常。18三体是与脐膨出相关的最常见异常。在染色体核型正常的胎儿中，中央型脐膨出的89%和上腹部型脐膨出的71%有其他异常。38例（66%）中央型脐膨出胎儿被终止妊娠，12例（21%）在孕期或产后死亡。11例（34%）上腹部型脐膨出胎儿被终止妊娠，8例（25%）在孕期或产后死亡。在从诊断时开始随访的90例病例中，有21例（23%）存活。在8例存活的中央型脐膨出胎儿中，只有2例被认为健康，6例有其他异常和/或发育严重受损。在13例存活的上腹部型脐膨出胎儿中，6例被认为健康，7例有其他异常和/或严重受损。
胎儿中央型和上腹部型脐膨出可能是不同的实体：中央型脐膨出比上腹部型脐膨出与染色体核型异常（69%）的关联更强。无论脐膨出类型如何，脐膨出胎儿的结局都很差，90例中目前仅有8例（9%）存活且健康。结果强调了识别预后可能良好且结局有利的胎儿以及可能有致命结局的胎儿的重要性。
