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New guidelines for congenital diaphragmatic hernia: what is next?
  1. Dick Tibboel
  1. Intensive Care, Erasmus MC Sophia Children Hospital, Rotterdam, The Netherlands
  1. Correspondence to Professor Dick Tibboel, Intensive Care, Erasmus MC Sophia Children Hospital, Rotterdam 3015, The Netherlands; d.tibboel{at}

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Developing treatment guidelines for rare diseases is always a challenge, especially when the quality of care varies due to differences in the experience of treatment teams, the low annual number of patients and the presence or absence of high-level evidence. The heterogeneity of the underlying disease makes it even harder to compare results and identify best practices based on core outcome sets. Congenital diaphragmatic hernia (CDH) serves as an excellent example of such a ‘disease’. Both clinicians as well as researchers have recognised this challenge and have extensively worked on different aspects to achieve optimal treatment results. Over the last 10 to 15 years, these efforts range from molecular genetic typing to ‘discovering’ the aetiology using advanced genetic techniques, such as next generation sequencing, to standardised long-term follow-up involving both the affected child and their families

More than a decade ago, the CDH EURO Consortium published international CDH postnatal treatment guidelines, with revisions made in 2016.1 Subsequently, Japanese and Canadian working groups also published their guidelines, demonstrating a more than 90% similarity. Unfortunately, the level of evidence for all treatment modalities was found to be quite …

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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.

  • Provenance and peer review Commissioned; internally peer-reviewed.

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