Over the past two decades there has been considerable progress with the evaluation and management of infants with an inconclusive diagnosis following Newborn Screening (NBS) for cystic Fibrosis (CF). In addition, we have an increasing amount of evidence on which to base guidance on the management of these infants and, importantly, we have a consistent designation being used across the globe of CRMS/CFSPID. There is still work to be undertaken and research questions to answer, but these infants now receive more consistent and appropriate care pathways than previously.

It is clear that the majority of these infants remain healthy, do not convert to a diagnosis of CF in childhood, and advice on management should reflect this. However, it is also clear that some will convert to a CF diagnosis and monitoring of these infants should facilitate their early recognition. Those infants that do not convert to a CF diagnosis have some potential of developing a CFTR-RD later in life. At present, it is not possible to quantify this risk, but families need to be provided with clear information of what to look out for. This paper contains a number of changes from previous guidance in light of developing evidence, but the major change is the recommendation of a detailed assessment of the child with CRMS/CFSPID in the sixth year of age, including respiratory function assessment and imaging. With these data, the CF team can discuss future care arrangements with the family and come to a shared decision on the best way forward, which may include discharge to primary care with appropriate information. Information is key for these families, and we recommend consideration of a further appointment when the individual is a young adult to directly communicate the implications of the CRMS/CFSPID designation.

在过去的二十年中，在新生儿囊性纤维化 (CF) 筛查 (NBS) 后诊断不确定的婴儿的评估和管理方面取得了相当大的进展。此外，我们有越来越多的证据可以作为这些婴儿管理指南的基础，更重要的是，我们在全球范围内使用了一致的 CRMS/CFSPID 名称。仍有工作要做，研究问题要回答，但这些婴儿现在得到比以前更一致和适当的护理途径。

很明显，这些婴儿中的大多数保持健康，不会在儿童期转为诊断为 CF，管理建议应反映这一点。然而，同样清楚的是，有些婴儿将转换为 CF 诊断，对这些婴儿的监测应该有助于他们的早期识别。那些未转换为 CF 诊断的婴儿在以后的生活中可能会发展为 CFTR-RD。目前，无法量化这种风险，但需要向家庭提供有关应注意​​什么的明确信息。鉴于不断发展的证据，本文包含与先前指南相比的一些变化，但主要变化是建议对 6 岁时患有 CRMS/CFSPID 的儿童进行详细评估，包括呼吸功能评估和影像学检查。有了这些数据，CF 团队可以与家人讨论未来的护理安排，并就最佳的前进方式做出共同决定，其中可能包括出院并提供适当的信息。信息是这些家庭的关键，我们建议在个人是年轻人时考虑进一步任命，以直接传达 CRMS/CFSPID 指定的含义。