Department of Paediatric Surgery and Intensive Care, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynaecology, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
Arch Dis Child Fetal Neonatal Ed. 2019 Jan;104(1):F18-F23. doi: 10.1136/archdischild-2017-314700. Epub 2018 Mar 21.
To compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical growth and neurodevelopment in children with minor or giant omphalocele up to 2 years of age.
We included fetuses and neonates diagnosed in 2000-2012. Physical growth (SD scores, SDS) and mental and motor development at 12 and 24 months were analysed using general linear models, and outcomes were compared with reference norms. Giant omphalocele was defined as defect ≥5 cm, with liver protruding.
We included 145 fetuses and neonates. Of 126 (87%) who were diagnosed prenatally, 50 (40%) were liveborn and 35 (28%) survived at least 2 years. Nineteen (13%) neonates were diagnosed after birth. Of the 69 liveborn neonates, 52 (75%) survived and 42 children (81% of survivors) were followed longitudinally. At 24 months, mean (95% CI) height and weight SDS were significantly below 0 in both minor (height: -0.57 (-1.05 to -0.09); weight: -0.86 (-1.35 to -0.37)) and giant omphalocele (height: -1.32 (-2.10 to -0.54); weight: -1.58 (-2.37 to -0.79)). Mental development was comparable with reference norms in both groups. Motor function delay was found significantly more often in children with giant omphalocele (82%) than in those with minor omphalocele (21%, P=0.002).
The prenatal and postnatal frames of reference of omphalocele differ considerably; a multidisciplinary approach in parental counselling is recommended. As many children with giant omphalocele had delayed motor development, we recommend close monitoring of these children and early referral to physical therapy.
比较脐膨出胎儿期（即胎儿存活）和出生后（即存活新生儿）的参考框架，并评估出生时脐膨出大小为小或巨大的儿童在 2 岁之前的体格生长和神经发育情况。
我们纳入了 2000 年至 2012 年期间诊断的胎儿和新生儿。采用一般线性模型分析 12 个月和 24 个月时的体格生长（标准差评分、SDS）和精神运动发育，并与参考标准进行比较。巨大脐膨出定义为缺陷≥5cm，肝脏突出。
我们纳入了 145 名胎儿和新生儿。在 126 名（87%）产前诊断的病例中，50 名（40%）为活产，35 名（28%）至少存活 2 年。19 名（13%）新生儿在出生后诊断。在 69 名存活的新生儿中，52 名（75%）存活，42 名儿童（81%的幸存者）进行了纵向随访。在 24 个月时，小脐膨出（身高：-0.57（-1.05 至-0.09）；体重：-0.86（-1.35 至-0.37））和巨大脐膨出（身高：-1.32（-2.10 至-0.54）；体重：-1.58（-2.37 至-0.79））患儿的身高和体重 SDS 均显著低于 0。两组患儿的精神发育与参考标准相当。在巨大脐膨出患儿中，运动功能延迟的发生率显著高于小脐膨出患儿（82%比 21%，P=0.002）。
脐膨出的产前和产后参考框架差异很大；建议在父母咨询中采取多学科方法。由于许多巨大脐膨出患儿存在运动发育迟缓，我们建议对这些患儿进行密切监测，并及早转介至物理治疗。
