New guidelines for congenital diaphragmatic hernia: what is next?

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...
Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - Category: Perinatology & Neonatology Authors: Tags: Editorials Source Type: research