An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia, and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of the umbilical cord. Other anatomic abnormalities are seen in approximately 50% of cases, most notably cardiac defects (19%–32%). Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith–Wiedemann syndrome. Therefore, a thorough evaluation is recommended, including detailed anatomic survey, fetal echocardiogram, genetic counseling, and prenatal diagnostic testing. Overall prognosis depends on the size of the omphalocele, genetic studies, and associated anomalies. Early prenatal diagnosis remains important in order to provide parental counseling and assist in pregnancy management. Delivery should occur at a tertiary care center. Timing and mode of delivery should be based on standard obstetric indications with cesarean delivery reserved for large omphalocele (>5 cm) or those that involve the fetal liver. Neonatal management involves either primary or staged reduction, both of which can be associated with a prolonged neonatal hospitalization.

中文翻译：

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脐膨出——我们应该告诉准父母什么？

脐膨出是腹壁的先天性缺陷，其特征是缺少腹肌、筋膜和皮肤。特征性的超声表现包括中线缺损，腹部内容物突出到脐带底部。在大约 50% 的病例中可见其他解剖异常，最显着的是心脏缺陷 (19%–32%)。大约 50% 的病例与遗传和多发性畸形综合征有关，包括 13/18 三体、Cantrell 五联症和 Beckwith-Wiedemann 综合征。因此，建议进行彻底的评估，包括详细的解剖学调查、胎儿超声心动图、遗传咨询和产前诊断测试。总体预后取决于脐膨出的大小、遗传研究和相关异常。为了提供父母咨询和协助妊娠管理，早期产前诊断仍然很重要。分娩应在三级保健中心进行。分娩时间和方式应基于标准的产科适应症，剖宫产仅用于大脐膨出（> 5 cm）或涉及胎儿肝脏的那些。新生儿管理包括初级或分期减少，这两者都可能与新生儿住院时间延长有关。