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Omphalocele: from diagnosis to growth and development at 2 years of age
  1. Annelieke Hijkoop1,
  2. Nina C J Peters2,
  3. Rosan L Lechner1,
  4. Yolande van Bever3,
  5. Annabel P J M van Gils-Frijters1,
  6. Dick Tibboel1,
  7. René M H Wijnen1,
  8. Titia E Cohen-Overbeek2,
  9. Hanneke IJsselstijn1
  1. 1 Department of Paediatric Surgery and Intensive Care, Erasmus MC-Sophia Children’s Hospital, Rotterdam, The Netherlands
  2. 2 Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynaecology, Erasmus MC-Sophia Children’s Hospital, Rotterdam, The Netherlands
  3. 3 Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
  1. Correspondence to Dr Hanneke IJsselstijn, Department of Paediatric Surgery, Erasmus MC–Sophia Children’s Hospital, Rotterdam 3015 GJ, The Netherlands; h.ijsselstijn{at}


Objectives 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.

Design 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.

Results 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).

Conclusions 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.

  • omphalocele
  • abdominal wall defect
  • outcome
  • follow-up
  • growth
  • neurodevelopment

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  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Ethics approval The Medical Ethical Review Board of the Erasmus Medical Centre waived approval because data obtained during routine care were retrospectively analysed (MEC-2015-308).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement No additional data are available.

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