Evolution of neonatal cystic fibrosis screening and exploration in China
10.3760/cma.j.cn113903-20240902-00602
- VernacularTitle:新生儿囊性纤维化筛查的演变与中国探索
- Author:
Cong WANG
1
;
Wenpei TANG
1
Author Information
1. 北京大学医学人文学院，北京 100191
- Publication Type:Journal Article
- Keywords:
Cystic fibrosis;
Neonatal screening;
Genetic testing technologies
- From:
Chinese Journal of Perinatal Medicine
2025;28(4):349-352
- CountryChina
- Language:Chinese
-
Abstract:
This article reviews the evolution of neonatal cystic fibrosis (CF) screening in Europe and North America, with a focus on the development and clinical application of sweat testing and immunoreactive trypsinogen assays. It highlights the growing recognition of early screening benefits and associated challenges. In China, neonatal CF screening has not been widely implemented due to low disease incidence and atypical clinical presentations, which complicate early diagnosis. Advances in genetic testing technologies and research on CFTR gene variants specific to the Chinese population may drive future progress in screening and therapeutic strategies.
