Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance

oleh: F. Neemuchwala, M. Taki, E. Secord, S. Z. Nasr

Format: Article
Diterbitkan: Wiley 2018-01-01

Deskripsi

Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical presentation of CF. We present a case of a young male with negative newborn screen diagnosed for CF. He was diagnosed at 3 years of age despite having symptoms indicative of CF since infancy. The delayed diagnosis resulted in diffuse lung damage and poor growth.