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Published on: May 10, 2014
Factors Affecting Immunoreactive Trypsinogen Levels in Cystic Fibrosis Newborn Screening
Handan Kekec1, Tugba Sismanlar Eyuboglu1, Ayse Tana Aslan1
1Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Türkiye.
Insights
Elevated immunoreactive trypsinogen (IRT) levels in newborn screening may be influenced by maternal factors like chronic disease and gestational age. Understanding these factors can improve cystic fibrosis screening accuracy.
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.
Objective:
Cystic fibrosis (CF) is a genetic disorder associated with high morbidity and mortality. Elevated immunoreactive trypsinogen (IRT) levels are used for CF newborn screening (NBS). This study aims to identify factors contributing to elevated IRT levels.
Materials And Methods:
This case-control study included children with false-positive IRT levels (Group 1) detected during CF NBS between January 1, 2023, and January 1, 2024. A control group (Group 2) consisted of healthy children with normal IRT levels. Demographic and clinical data were retrospectively collected and compared between the 2 groups.
Results:
A total of 76 infants with elevated IRT were identified, of whom 3 were excluded due to a confirmed CF diagnosis. Consequently, 73 infants were included in Group 1 and 77 in Group 2. The median age at admission was significantly lower in Group 1 (P < .001). No significant differences were observed between the groups regarding sex, growth Z-scores, daily weight gain, or season of birth (P > .05). Maternal factors, including higher gravity (P=.013), smoking exposure (P=.023), and chronic diseases (P=.003), were more common in Group 1. Logistic regression analysis identified gestational age <42 weeks and maternal chronic disease (P < .001, P =.006) as independent predictors of elevated IRT.
Conclusion:
False positives are common in IRT-based NBS. Factors such as gestational age and maternal characteristics-including higher gravity, smoking exposure, and chronic illnesses-may be linked to elevated IRT levels in newborns. Post-term birth may protect against false-positive IRT. Perinatal and maternal factors should be considered when interpreting IRT results to improve screening accuracy.
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