Immunoreactive Trypsinogen and Free Carnitine Changes on Newborn Screening after Birth in Patients Who Develop Type 1 Diabetes [PDF]
Nutrients, 2021 Are free carnitine concentrations on newborn screening (NBS) 48–72 h after birth lower in patients who develop type 1 diabetes than in controls? A retrospective case-control study of patients with type 1 diabetes was conducted.
Akhil Gupta, David Simmons
exaly +7 more sources
Next-Generation Sequencing for Cystic Fibrosis: Florida Newborn Screening Experience [PDF]
International Journal of Neonatal ScreeningCystic fibrosis (CF) is an autosomal recessive genetic condition affecting nearly 1 in 4000 newborns. Early diagnosis and treatment have been shown to improve the care of individuals with CF, which is enhanced through newborn screening (NBS).
Deanna M. Green +12 more
doaj +2 more sources
Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation [PDF]
International Journal of Neonatal ScreeningNewborn screening for cystic fibrosis (CF) has been universal in the US since 2010; however, there is significant variation among newborn screening algorithms.
Meghan E. McGarry +16 more
doaj +2 more sources
Evaluating Georgia’s Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations [PDF]
International Journal of Neonatal ScreeningEarly diagnosis by newborn screening (NBS) has contributed to improved outcomes in children with cystic fibrosis (CwCF). Georgia’s two-tiered algorithm consists of a fixed immunoreactive trypsinogen (IRT) cut-off followed by a 39-variant CFTR genetic ...
Brittany Truitt +8 more
doaj +2 more sources
Reflections on 50 Years of Cystic Fibrosis Newborn Screening Experience with Critical Perspectives, Assessment of Current Status, and Predictions for Future Improvements [PDF]
International Journal of Neonatal ScreeningThe morbidity/mortality risks of cystic fibrosis (CF) with a delayed diagnosis have made newborn screening (NBS) attractive for the past 50 years. Initial efforts focused on meconium analyses, but these proved unsatisfactory.
Philip M. Farrell
doaj +2 more sources
Complicated meconium ileus in a male neonate with cystic fibrosis: Case report [PDF]
Radiology Case ReportsIn about 10%-15% of instances, meconium ileus (MI) is the first sign of cystic fibrosis (CF). If a newborn exhibits signs of intestinal obstruction and does not pass meconium within a short period of time after birth, MI is suspected. The cystic fibrosis
Mohamed Sellouti +2 more
doaj +2 more sources
False-negative newborn screening result for immunoreactive trypsinogen: a major problem in children with chronic lung disease [PDF]
Jornal Brasileiro de Pneumologia, 2019 Magali Santos Lumertz +3 more
doaj +2 more sources
Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil [PDF]
Jornal de Pediatria, 2023 Objective: To analyze the performance of the cystic fibrosis (CF) newborn screening (NBS) program over its first five years in a Brazilian northeastern state.
Carolina Godoy +5 more
doaj +2 more sources
Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing [PDF]
International Journal of Neonatal ScreeningThe California Genetic Disease Screening Program (GDSP) employs a fixed immunoreactive trypsinogen (IRT) cutoff followed by molecular testing to screen newborns for cystic fibrosis (CF).
Stanley Sciortino +6 more
doaj +2 more sources
IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population [PDF]
Cadernos de Saúde Pública: The Brazilian Unified National Health System (SUS) has incorporated newborn screening for cystic fibrosis since 2001. The protocol involves two samples of immunoreactive trypsinogen (IRT1/IRT2).
Carolina Godoy +4 more
doaj +2 more sources