Factors Affecting Immunoreactive Trypsinogen Levels in Cystic Fibrosis Newborn Screening

Area of Science:

• Neonatal screening
• Genetics
• Public health

Background:

• Cystic Fibrosis (CF) presents significant morbidity and mortality.
• Elevated Immunoreactive Trypsinogen (IRT) is a key indicator in CF newborn screening (NBS).
• Identifying factors for false-positive IRT results is crucial for screening accuracy.

Purpose of the Study:

• To identify factors contributing to elevated IRT levels in newborns undergoing CF NBS.
• To differentiate between true positives and false positives in IRT screening.

Main Methods:

• A case-control study compared infants with false-positive IRT levels (Group 1) to healthy controls (Group 2).
• Retrospective collection of demographic and clinical data.
• Logistic regression analysis to identify independent predictors of elevated IRT.

Main Results:

• Maternal factors such as higher gravity, smoking exposure, and chronic diseases were more prevalent in the false-positive group.
• Younger gestational age (<42 weeks) and maternal chronic disease independently predicted elevated IRT.
• No significant differences in sex, growth, or birth season were observed.

Conclusions:

• False positives are common in IRT-based NBS.
• Gestational age and maternal health characteristics are associated with elevated IRT.
• Considering perinatal and maternal factors enhances the interpretation of IRT results for improved CF screening.