Detection of disease-causing CFTR variants in state newborn screening programs.

ABSTRACT:

Background

Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United State of America and include different cystic fibrosis transmembrane conductance regulator (CFTR) variants. CFTR variant distribution varies among racial and ethnic groups.

Objective

Our objectives were to identify differences in detection rate by race and ethnicity for CFTR variant panels, identify each US state detection rate for CFTR variant panels, and describe the rate of false-negative NBS and delayed diagnoses by race and ethnicity.

Methods

This is a cross-sectional analysis of the detection rate of at least 1 CFTR variant for seven panels by race and ethnicity in genotyped people with CF (PwCF) or CFTR-related metabolic syndrome (CRMS)/CFTR-related disorders in CF Foundat

SUBMITTER: McGarry ME 

PROVIDER: S-EPMC9870974 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature