Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.
Pediatr Pulmonol
; 59(11): 2901-2909, 2024 Nov.
Article
en En
| MEDLINE
| ID: mdl-38940324
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 infants born in California with CF, 84 had a false-negativeresult:
38 due to low IRT level and 46 with a high IRT value (but incomplete variant detection). Asian (OR 6.3) and Black infants (OR 2.5) were more likely to have a false-negative screening result than non-Hispanic white infants. The majority of false-negative screening (but CF diagnosis) cases among American Indian/Native Alaskan and non-Hispanic White infants were due to low IRT levels. The majority of Asian and Hispanic infants with false-negative screening had no variants detected. Detection of two CFTR variants was improved with the 75-variant panel in Black, Hispanic, and non-Hispanic White infants and with the 402-variant panel in Black, Hispanic, non-Hispanic White, and other race infants.CONCLUSIONS:
Larger CFTR panels in NBS improved the detection of CF in all races and ethnicities.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Tamizaje Neonatal
/
Regulador de Conductancia de Transmembrana de Fibrosis Quística
/
Fibrosis Quística
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Pediatr Pulmonol
/
Pediatr. pulmonol
/
Pediatric pulmonology
Asunto de la revista:
PEDIATRIA
Año:
2024
Tipo del documento:
Article