Farrell Philip M, Paul Grace R, Varkki Sneha D
Departments of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, 600 Highland Avenue, Madison, WI 53792, USA.
Division of Pulmonary and Sleep Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43025, USA.
Int J Neonatal Screen. 2025 Apr 17;11(2):27. doi: 10.3390/ijns11020027.
Because a delayed diagnosis of cystic fibrosis (CF) is detrimental and may be fatal, screening at birth has become routine in the Western world and has proven beneficial for many reasons, in addition to enabling prompt specialized care. Newborn screening (NBS) programs have elucidated the true incidence of CF in a variety of populations and enabled rapid genotype identification through the analysis of the cystic fibrosis transmembrane regulator () gene. NBS studies also have revealed regional and population differences in variants and refuted the dogma that CF is a "white person's disease". But some regions have not yet implemented CF NBS, particularly in Asia where the disease prevalence has been uncertain. While the needs of a few low-and-middle-income countries are being addressed sequentially, one of the regions of greatest current interest is the Indian subcontinent because of recent data suggesting a higher incidence than that previously assumed, and clinical observations indicating tragic outcomes due to delayed diagnoses or failure to diagnose the disorder in young children. Thus, we conclude that the opportunities for research combined with service in the Indian subcontinent are urgent and potentially very impactful. Consequently, India is the for CF NBS, as we argue herein.
由于囊性纤维化（CF）的延迟诊断有害且可能致命，在西方世界，出生时进行筛查已成为常规做法，并且除了能够提供及时的专科护理外，还因多种原因被证明是有益的。新生儿筛查（NBS）项目已经阐明了CF在各种人群中的真实发病率，并通过分析囊性纤维化跨膜传导调节因子（）基因实现了快速的基因型鉴定。NBS研究还揭示了基因变异的区域和人群差异，并驳斥了CF是“白人疾病”的教条。但一些地区尚未实施CF NBS，尤其是在疾病患病率尚不确定的亚洲。虽然一些低收入和中等收入国家的需求正在逐步得到满足，但目前最受关注的地区之一是印度次大陆，因为最近的数据表明其发病率高于先前的假设，并且临床观察表明，由于幼儿诊断延迟或未能诊断该疾病会导致悲惨后果。因此，我们得出结论，在印度次大陆进行研究与服务的机会非常迫切且可能具有很大影响力。因此，正如我们在此所主张的，印度是CF NBS的理想之地。
