{Reference Type}: Journal Article
{Title}: Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.
{Author}: McGarry ME;Sciortino S;Graham S;Bishop T;Gibb ER;
{Journal}: Pediatr Pulmonol
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jun 28
{Factor}: 4.09
{DOI}: 10.1002/ppul.27155
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>Of the 912 infants born in California with CF, 84 had a false-negative result: 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.<BR><B>CONCLUSIONS: </B>Larger CFTR panels in NBS improved the detection of CF in all races and ethnicities.