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[Mucoviscidosis screening with immunoreactive trypsin. Initial experiences in Austria]
Insights
Newborn screening using immunoreactive trypsin (IRT) testing on dried blood spots is a reliable method for identifying cystic fibrosis (CF) patients. Preliminary Austrian data suggest a CF incidence of 1 in 3880.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Context:
- Newborn screening programs aim to detect genetic disorders early.
- Dried blood spot (DBS) analysis is a common method for neonatal screening.
- Early detection of cystic fibrosis (CF) is crucial for timely intervention and improved outcomes.
Purpose:
- To evaluate the efficacy of immunoreactive trypsin (IRT) testing on DBS for newborn screening of CF.
- To determine the incidence of CF in the southeast of Austria through IRT screening.
- To assess the reliability of IRT as a screening tool in the neonatal period.
Summary:
- Over 16,000 IRT measurements were performed on DBS, with over 15,500 in the first week of life.
- A provisional IRT cutoff of 750 ng/ml identified 0.86% of newborns for retesting.
- Four confirmed CF cases were identified through sweat testing after initial IRT elevations, with no false negatives reported.
Impact:
- IRT screening demonstrates reliability in identifying CF patients during the newborn period.
- Preliminary findings suggest a CF incidence of 1:3880 in southeast Austria.
- Further data collection is ongoing to establish comprehensive reference values for the first twelve weeks of life.
Abstract:
Up to now, 16.338 IRT-measurements have been carried out on dried blood spot specimens; 15.505 of them were taken in the first week of life. Related to a provisionally chosen cut-off point of 750 ng/ml, 134 newborns (= 0.86%) showed an elevated IRT-value and subsequently were recalled between the fourth and sixth week of life for a second IRT-determination. Twenty-five out of 116 reinvestigated children again showed an elevated value, as based on likewise provisional, age-dependent reference values. Four of these children subsequently were identified as CF patients by sweat testing. So far, we did not encounter any false-negative IRT values. We also commenced to establish a profile of reference values for the first twelve weeks of life; as yet, there are not enough data for definitely defining these limits of normality. In conclusion, IRT-screening appears to be a reliable method for identifying CF patients in the newborn period. Our preliminary results indicate an incidence of CF of 1 to 3880 in the southeast of Austria.