University of Colorado School of Medicine, Aurora, Colorado, USA.
Curr Opin Pediatr. 2012 Jun;24(3):329-35. doi: 10.1097/MOP.0b013e328353489a.
Newborn screening for cystic fibrosis (CF) is now universal in the US and many other countries. The rapid expansion of screening has resulted in numerous publications identifying new challenges for healthcare providers. This review provides an overview of these publications and includes ideas on managing these challenges.
Most CF newborn screening algorithms involve DNA mutation analysis. As screening has expanded, new challenges have been identified related to carrier detection and inconclusive diagnoses. Early descriptions of infants with CF-related metabolic syndrome (CRMS) indicate that the natural history of this condition cannot be predicted. Early identification has also provided an opportunity to better understand the pathophysiology of CF. However, few studies have been conducted in infants with CF to determine optimal therapy and recommendations are largely anecdotal.
Newborn screening provides an opportunity to identify and begin treatment early in individuals with CF. Whereas a single, optimal approach to screening does not exist, all programs can benefit from new findings regarding sweat testing, carrier detection, early pathophysiology, and clinical outcomes.
囊性纤维化（CF）的新生儿筛查目前已在美国和许多其他国家普及。筛查的快速扩展导致了大量出版物的出现，这些出版物提出了医疗保健提供者面临的新挑战。本综述概述了这些出版物，并提出了应对这些挑战的思路。
大多数 CF 新生儿筛查算法都涉及 DNA 突变分析。随着筛查范围的扩大，已经确定了与携带者检测和不确定诊断相关的新挑战。对伴有 CF 相关代谢综合征（CRMS）的婴儿的早期描述表明，这种情况的自然史无法预测。早期识别也为更好地了解 CF 的病理生理学提供了机会。然而，很少有针对 CF 婴儿的研究来确定最佳治疗方法，建议主要是轶事证据。
新生儿筛查为 CF 患者提供了一个早期识别和开始治疗的机会。虽然不存在单一的、最佳的筛查方法，但所有的方案都可以从有关汗液检测、携带者检测、早期病理生理学和临床结果的新发现中受益。
