National Institute of Women, Children and Adolescents Health Fernandes Figueira/Oswaldo Cruz Foundation (IFF/FIOCRUZ), Rio de Janeiro, Brazil.
BMC Pregnancy Childbirth. 2023 Jun 7;23(1):424. doi: 10.1186/s12884-023-05741-z.
The objective of this paper is to describe the clinical and epidemiological profile and the early outcomes of patients with omphalocele born in a fetal medicine, pediatric surgery, and genetics reference hospital in Rio de Janeiro - Brazil. To determine its prevalence, describe the presence of genetic syndromes, and congenital malformations, emphasizing the characteristics of congenital heart diseases and their most common types.
Using Latin-American Collaborative Study of Congenital Malformations (ECLAMC) database and records review, a retrospective cross-sectional study was performed, including all patients born with omphalocele between January 1st, 2016, and December 31st, 2019.
During the period of the study, our unity registered 4,260 births, 4,064 were live births and 196 stillbirths. There were 737 diagnoses of any congenital malformation, among them 38 cases of omphalocele, 27 were live born, but one was excluded for missing data. 62.2% were male, 62.2% of the women were multiparous and 51.3% of the babies were preterm. There was an associated malformation in 89.1% of the cases. Heart disease was the most common (45.9%) of which tetralogy of Fallot was the most frequent (23.5%). Mortality rate was 61.5%.
Our data showed a good correspondence with the existing literature. Most patients with omphalocele had other malformations, especially congenital heart disease. No pregnancy was interrupted. The presence of concurrent defects showed a huge impact on prognosis, since, even if most survived birth, few remained alive and received hospital discharge. Based on these data, fetal medicine and neonatal teams must be able to adjust parents counseling about fetal and neonatal risks, especially when other congenital diseases are present.
本文旨在描述在巴西里约热内卢的一家胎儿医学、小儿外科和遗传学参考医院出生的脐膨出患者的临床和流行病学特征及早期结局。确定其患病率，描述遗传综合征和先天性畸形的存在，强调先天性心脏病及其最常见类型的特征。
使用拉丁美洲先天性畸形合作研究（ECLAMC）数据库和病历回顾，进行了一项回顾性横断面研究，纳入 2016 年 1 月 1 日至 2019 年 12 月 31 日期间出生的所有脐膨出患者。
在研究期间，我们的单位共登记了 4260 例分娩，其中 4064 例为活产，196 例为死产。有 737 例任何先天性畸形的诊断，其中 38 例为脐膨出，27 例为活产，但有 1 例因数据缺失而被排除。62.2%为男性，62.2%的女性为多产妇，51.3%的婴儿为早产儿。89.1%的病例存在相关畸形。心脏病是最常见的（45.9%），其中法洛四联症最常见（23.5%）。死亡率为 61.5%。
我们的数据与现有文献有很好的一致性。大多数脐膨出患者都有其他畸形，特别是先天性心脏病。没有妊娠中断。并存缺陷的存在对预后有很大影响，因为即使大多数在出生时存活，也只有少数存活并出院。基于这些数据，胎儿医学和新生儿团队必须能够调整对胎儿和新生儿风险的家长咨询，特别是当存在其他先天性疾病时。
