Department of Neonatology, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark.
Pediatr Surg Int. 2024 Nov 22;41(1):1. doi: 10.1007/s00383-024-05897-5.
Omphalocele is a congenital abdominal wall defect associated with a high risk of morbidity and mortality, with co-occurring congenital malformations often being the most important prognostic factor. High rates of spontaneous and medical terminations have been reported among pregnancies with omphalocele and co-occurring malformations. Few studies have focused on co-occurring malformations, particularly non-gastrointestinal malformations among live births. This study examined birth prevalence of omphalocele and co-occurring major malformations among a 25-year Danish liveborn cohort.
This nationwide retrospective prevalence study used data from the Danish National Patient Register and Danish Civil Registration System for infants who were delivered in Denmark during 1997-2021 and included in the Danish neonatal screening biobank. Diagnoses of omphalocele and co-occurring malformations were ascertained and prevalence estimated using Poisson regression.
Among 1,498,685 live births, 147 infants with omphalocele were identified, yielding a combined and stable prevalence (per 10,000 infants) of 0.98 (95% CI 0.83-1.15). Over one-half (53.7%) presented with one or more major malformations, and an additional 17.0% were diagnosed with a syndrome.
Omphalocele birth prevalence in Denmark was stable over a recent 25-year period. The proportion of infants with co-occurring major malformations or diagnosed syndrome has important implications for long-term healthcare demands.
脐膨出是一种先天性腹壁缺陷，与较高的发病率和死亡率相关，同时存在的先天性畸形通常是最重要的预后因素。有报道称，脐膨出伴发畸形的妊娠中，自发性和医疗终止妊娠的比例较高。少数研究集中于伴发畸形，特别是在活产儿中，非胃肠道畸形。本研究调查了丹麦 25 年活产儿队列中脐膨出和伴发主要畸形的出生流行率。
这项全国性回顾性流行率研究使用了丹麦国家患者登记处和丹麦民事登记系统的数据，这些数据包括了在 1997 年至 2021 年期间在丹麦分娩并纳入丹麦新生儿筛查生物库的婴儿。通过确定脐膨出和伴发畸形的诊断，使用泊松回归估计患病率。
在 1,498,685 例活产儿中，确定了 147 例脐膨出患儿，总的（每 10,000 例婴儿）稳定流行率为 0.98（95%CI 0.83-1.15）。超过一半（53.7%）患儿存在一种或多种主要畸形，另外 17.0%被诊断为综合征。
在最近的 25 年期间，丹麦的脐膨出出生流行率保持稳定。伴发主要畸形或诊断为综合征的婴儿比例对长期医疗保健需求具有重要意义。
