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 …

中文翻译：

---

先天性膈疝的新指南：下一步是什么？

制定罕见疾病的治疗指南始终是一项挑战，特别是当护理质量因治疗团队的经验差异、每年患者数量较少以及是否存在高水平证据而存在差异时。潜在疾病的异质性使得比较结果和根据核心结果集确定最佳实践变得更加困难。先天性膈疝（CDH）就是这种“疾病”的一个很好的例子。临床医生和研究人员都认识到这一挑战，并在不同方面进行了广泛的工作，以实现最佳的治疗结果。在过去的 10 到 15 年里，这些努力的范围从分子遗传分型到使用先进的遗传技术（例如下一代测序）“发现”病因，再到涉及受影响儿童及其家人的标准化长期随访。十年前，CDH EURO联盟发布了国际CDH产后治疗指南，并于2016年进行了修订。1随后，日本和加拿大工作组也发布了指南，相似度超过90%。不幸的是，所有治疗方式的证据水平都相当低……