Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2026
Timeliness to diagnostic and early care milestones after newborn screening for Cystic Fibrosis in Texas: 14 years of experience at 2 centers.
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Pottorff Alexandra, Knight Savannah, Cannon Carolyn L, Lee MinJae, Ren Clement L, Ruiz Fadel, Tuley Pamela, Willey-Courand Donna Beth, Wong Christopher, Sathe Meghana
Аннотация
BACKGROUND: Texas implemented Newborn Screening (NBS) for Cystic Fibrosis (CF) in December 2009. This study aimed to determine the timeliness of key CF diagnostic milestones in Texas at two CF centers, NBS sensitivity for CF, and the impact of timeliness on anthropometric outcomes.
METHODS: This retrospective cohort study reviewed data from the electronic health record for people with CF (pwCF) born in Texas and cared for at two pediatric CF centers between 12/1/2009- 1/1/2024. Outcomes included time from birth to the NBS, first CF event, NBS results, number of variants identified, and long-term anthropometric outcomes.
RESULTS: Among 384 pwCF identified, 35 false negative cases yielded a sensitivity of 90.9%. Detection of two variants improved from 65.64% to 72.46% after expansion of the CFTR variant panel. Among 247 pwCF, median age of first CF event (AFE) was 29 days. Proportion of pwCF with AFE by 28 days of age improved from 35% to 54% after variant panel expansion (p = 0.011). PwCF with two variants identified had earlier median AFE (27 days) compared to those with one variant (33.5 days) or no variants (47.5 days; p < 0.0001). PwCF with very delayed AFE had lower weight-for-age and weight-for-length z-scores.
CONCLUSION: Most pwCF experienced a delayed AFE, possibly related to timing of second NBS. PwCF with only one or no CF causing variants identified on NBS experienced greater delays, highlighting the concerns of utilizing a limited variant panel. These suggest a need to optimize Texas CF NBS practices and may inform screening methods in other states.
METHODS: This retrospective cohort study reviewed data from the electronic health record for people with CF (pwCF) born in Texas and cared for at two pediatric CF centers between 12/1/2009- 1/1/2024. Outcomes included time from birth to the NBS, first CF event, NBS results, number of variants identified, and long-term anthropometric outcomes.
RESULTS: Among 384 pwCF identified, 35 false negative cases yielded a sensitivity of 90.9%. Detection of two variants improved from 65.64% to 72.46% after expansion of the CFTR variant panel. Among 247 pwCF, median age of first CF event (AFE) was 29 days. Proportion of pwCF with AFE by 28 days of age improved from 35% to 54% after variant panel expansion (p = 0.011). PwCF with two variants identified had earlier median AFE (27 days) compared to those with one variant (33.5 days) or no variants (47.5 days; p < 0.0001). PwCF with very delayed AFE had lower weight-for-age and weight-for-length z-scores.
CONCLUSION: Most pwCF experienced a delayed AFE, possibly related to timing of second NBS. PwCF with only one or no CF causing variants identified on NBS experienced greater delays, highlighting the concerns of utilizing a limited variant panel. These suggest a need to optimize Texas CF NBS practices and may inform screening methods in other states.