Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Baylor College of Medicine, Houston, Texas, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Prenat Diagn. 2021 Mar;41(4):486-496. doi: 10.1002/pd.5886. Epub 2021 Feb 4.
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.
脐膨出是一种腹壁先天性缺陷，其特征为腹壁肌肉、筋膜和皮肤缺失。典型的超声表现为中线缺损，腹部内容物疝入脐带根部。约 50%的病例还存在其他解剖结构异常，最常见的是心脏缺陷（19%-32%）。大约 50%的病例与遗传和多发畸形综合征相关，包括 13/18 三体、Cantrell 五联征和 Beckwith-Wiedemann 综合征。因此，建议进行全面评估，包括详细的解剖结构检查、胎儿超声心动图、遗传咨询和产前诊断检测。总体预后取决于脐膨出的大小、遗传学研究和相关畸形。早期产前诊断仍然很重要，以便为父母提供咨询并协助妊娠管理。分娩应在三级医疗中心进行。分娩时机和方式应基于标准的产科指征，对于巨大脐膨出（>5cm）或涉及胎儿肝脏的脐膨出，应保留剖宫产。新生儿管理包括一期或分期复位，两者都可能导致新生儿住院时间延长。
