Congenital Diaphragmatic Hernia

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Key points

  • Currently we have limited information about the extent to which CDH is diagnosed and managed antenatally across the UK.
  • Population-based incidence information and information about the impact of different management strategies, is essential to provide a true picture of the prognosis for infants with CDH in the UK.
  • Existing congenital anomaly registers cover only 50% of UK births and cannot be used to study the condition on a national basis.
  • This study will provide a national picture of the incidence of the condition, its management and outcomes.

Surveillance Period

April 2009 – March 2010

Background

Congenital diaphragmatic hernia (CDH) is a musculoskeletal defect of the diaphragm which occurs during fetal development. It affects between 1 in 2,000 to 1 in 4,000 births in the UK[1]. Based on antenatal ultrasound findings the clinician can provide some, although at present incomplete, information to expectant parents about the likely immediate outcomes for their pregnancy. Available data are limited but indicate that a significant proportion of surviving infants experience substantial problems of respiratory, neurological, skeletal and gastrointestinal function and growth, and consequent disability[2][3][4]. However, CDH is a rare condition and thus this information largely comes from case series collected over long periods of time reported from referral centres rather than population-based data which would give the full up-to-date picture.

At present we have limited UK-based information about the diagnosed incidence and birth incidence and prevalence of CDH, especially in areas of the country not covered by a regional congenital anomaly register. We also have limited information about the extent to which the condition is diagnosed and managed antenatally across the UK. The former is important since early antenatal diagnosis has important implications for both the antenatal and postnatal management of affected pregnancies including decisions about place and timing of delivery and induction of labour; it is unclear to what extent different antenatal management strategies affect outcome.

The optimum management of the fetus and newborn with CDH remains contentious[5][6]. Despite advances in treatment mortality in the newborn period remains high (estimated up to 50%) with better results (>80% survival) controversially reported from specialist centres[5][6][7][8]. Population-based information to describe the overall picture from antenatal diagnosis, and the impact of different management strategies, is essential to provide a true picture of the prognosis in the UK for fetuses/infants with CDH in the early 21st century.

Objective

To combine the use of UKOSS, paediatric surgical and congenital anomaly reporting systems to assess the diagnosed and birth incidence of CDH in the UK.

Research questions

  • What is the current diagnosed incidence and birth incidence of CDH in the UK and in the populations not covered by a congenital anomaly register?
  • What proportion of cases are diagnosed antenatally, at what gestation, how does this vary across the UK and what proportion are isolated anomalies?
  • How are CDH-affected pregnancies managed, does this involve a multi-disciplinary team and does management vary by gestational age at diagnosis and the presence of chromosomal or other structural anomalies? What proportion were recruited to the on-going FETO-trial?
  • What are the immediate pregnancy outcomes and do these vary across the country?
  • What proportion of cases are notified through UKOSS, BAPS-CASS and congenital anomaly registers?

Case definition

Any pregnant woman with a fetus affected by a congenital diaphragmatic hernia.

Funding

Action Medical Research

Ethics committee approval

The study has been approved by the London MREC (study ref 09/H0718/9).

Investigators

  • Marian Knight, Jennifer Kurinczuk, Peter Brocklehurst, NPEU
  • Mr David Howe, University of Southampton
  • Dr Judith Rankin, University of Newcastle
  • Professor Elizabeth Draper, University of Leicester
  • Prof Paul Losty, University of Liverpool

Download the Data Collection Form (DCF)

UKOSS Congenital Diaphragmatic Hernia Form

References

  1. ^ EUROCAT website: http://www.bio-medical.co.uk/eurocatlive/search2.cgi (accessed 19th June 2008).
  2. ^ Davis PJ, Firmin RK, Manktelow B, Goldman AP, Davis CF et al. Long-term outcome following extracorporeal membrane oxygenation for congenital diaphragmatic hernia: the UK experience. J Pediatr 2004;144:309-15.
  3. ^ American Academy of Pediatrics. Section on Surgery and the Committee on Fetus and Newborn. Postdischarge follow-up of infants with congenital diaphragmatic hernia. Pediatrics 2008;121:627-32.
  4. ^ Smith NP, Jesudason EC, Featherstone NC, Corbett HJ, Losty PD. Recent advances in congenital diaphragmatic hernia. Arch Dis Child 2005;90:426-28.
  5. a, b Conforti AF,Losty PD. Perinatal management of congenital diaphragmatic hernia. Early Hum Dev 2006;82:283-7.
  6. a, b Ba’ath ME, Jesudason EC, Losty PD. How useful is the lung-to-head ratio in predicting outcome in the fetus with congenital diaphragmatic hernia? A systematic review and meta-analysis. Ultrasound Obstet Gynecol 2007;30:897-906.
  7. ^ Beresford Mw, Shaw NJ. Outcome of congenital diaphragmatic hernia. Pediatr Pulmonol 2000;30:249-56.
  8. ^ Stege G, Fenton A, Jaffray B. Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia. Pediatrics 2003;112:532-5.

Updated: Tuesday, 07 May 2019 12:37 (v3)