Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.

ABSTRACT:

Background

Newborn screening (NBS) for cystic fibrosis (CF) is universal in the United States. Protocols vary but include an immunoreactive trypsinogen (IRT) level and CFTR variant panel. California CF NBS has a 3-step screening: IRT level, variant panel, and CFTR sequencing if only one variant identified on panel.

Methods

This was a cohort study of infants with CF born in California (2007-2021) to examine racial and ethnic differences in having a false-negative NBS result for CF and at which step the false-negative occurred. We examined how different CFTR variant panels would improve detection of variants by race and ethnicity: original 39-variant panel, current 75-variant panel, and all 402 disease-causing CFTR variants in the CFTR2 database.

Results

Of the 912 infa

SUBMITTER: McGarry ME 

PROVIDER: S-EPMC11784347 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature