Exomphalos

A prospective, national observational study to assess the incidence, comorbidities, management and outcomes of infants born with exomphalos in the UK and Ireland.

Key points

  • The UK population of live-born infants with exomphalos has undergone significant selection from the point of prenatal diagnosis associated with the high frequency of concomitant chromosomal abnormalities, malformation syndromes and structural defects[1][2][3].
  • Current information about the incidence of live-born infants with exomphalos and burden of comorbidity in this population is limited.
  • Variation in practice exists where primary fascial closure is not possible[4].
  • Population-based information is essential to provide a true picture of the prognosis of infants with exomphalos and the outcomes of varying management techniques.
  • This study will provide a national picture of the incidence of live-born exomphalos, its associated abnormalities, management and outcomes.

Surveillance Period

1st March 2014 – 29th February 2016

Background

Exomphalos is congenital abdominal wall defect characterised by herniation of the abdominal content through the umbilical ring. The exomphalos defect and the contents therein have a variety of structural variations, with a spectrum associated of clinical sequelae including pulmonary hypoplasia, distortion of hepatic venous drainage, intestinal non-rotation and bowel dilatation[4]. Management of larger defects containing liver and those with substantial viscero-abdominal disproportion represent a significant challenge to paediatric surgeons.

Varying management strategies have evolved to deal with these so-called 'major' defects and such infants represent the most complex and challenging babies born with exomphalos from a surgical point of view. There remains a lack of consensus about the optimal management approach in such cases[4][5].

A prospective observational study of a contemporary cohort will provide information on the impact of prenatal selection on the population of live-born infants with exomphalos, their associated comorbidities and outcome. It will also generate key data on a large number of infants who have undergone differing management strategies and allow comparison of the outcomes between these methods. Such data could inform the development of future interventional studies.

Objective

To determine the number of infants live-born with exomphalos in the UK and Ireland, assess their burden of co-morbidities and describe their management and outcomes.

Research questions

  1. What is the current incidence of live-born exomphalos in the UK and Ireland?
  2. How are these infants managed?
  3. What is the incidence of associated abnormalities in live-born infants?
  4. What factors are important in prognostication?
  5. What are the outcomes following different techniques of staged closure?

Case definition

Any live-born infant with herniation of the abdominal content through the umbilical ring, the contents being covered by a membrane. This membrane may have been ruptured at the time of delivery.

Excluded: All infants with gastroschisis.

Ethics approval

The study has been approved by the NRES Committee South Central-Oxford A (Ref:12/SC/0416)

Study Leads

Ms Anna-May Long, ST8 Paediatric Surgery; Professor Mark Davenport, Kings College Hospital; Professor Marian Knight, NPEU

Download the Data Collection Form (DCF)

BAPS-CASS Exomphalos DCF

PLEASE NOTE: The data collection form is for your information only. Please DO NOT use it to report a case or to provide us with information on a case you have reported. If you have reported a case to us, a form with the BAPS-CASS Case ID written on it will be sent to you. If you wish to report a case, or require an additional form please contact us. Thank you.

References

  1. ^ Lakasing L, Cicero S, Davenport M, Patel S, Nicolaides KH. Current outcome of antenatally diagnosed exomphalos: an 11 year review. Journal of pediatric surgery 2006; 41(8): 1403-6.
  2. ^ Chen CP. Chromosomal abnormalities associated with omphalocele. Taiwanese journal of obstetrics & gynecology 2007; 46(1): 1-8.
  3. ^ Khalil A, Arnaoutoglou C, Pacilli M, Szabo A, David AL, Pandya P. Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation. Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2012; 39(4): 401-6.
  4. a, b, c Christison-Lagay ER, Kelleher CM, Langer JC. Neonatal abdominal wall defects. Seminars in fetal & neonatal medicine 2011; 16(3): 164-72.
  5. ^ van Eijck FC, Aronson DA, Hoogeveen YL, Wijnen RM. Past and current surgical treatment of giant omphalocele: outcome of a questionnaire sent to authors. Journal of pediatric surgery 2011; 46(3): 482-8.