Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation
Isabel Delgado Pecellín1, Estela Pérez Ruiz2, Ana Isabel Álvarez Ríos3
1Unidad de Fibrosis Quística, Hospital Universitario Virgen del Rocío, Sevilla, España; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, España.
Insights
Cystic fibrosis neonatal screening (CFNS) in Andalusia diagnosed 73 cases, with a sensitivity of 85.71% and specificity of 99.78%. The program identifies most cystic fibrosis cases early, but improvements are suggested.
Area of Science:
- Neonatal screening
- Genetics
- Pediatric medicine
Background:
- Cystic fibrosis neonatal screening (CFNS) using immunoreactive trypsinogen (IRT) has been active in Andalusia since May 2011.
- The protocol involves IRT testing, followed by sweat tests and genetic analysis for positive or inconclusive results.
Purpose of the Study:
- To evaluate the performance of the CFNS program in Andalusia over its initial 4.5 years of operation.
- To analyze diagnostic outcomes, including sensitivity, specificity, and incidence of cystic fibrosis.
Main Methods:
- A prospective descriptive study was conducted on neonates undergoing CFNS.
- Data collected included IRT levels, sweat chloride concentrations, and genetic mutations.
- Statistical analysis was performed using SPSS 12.0.
Main Results:
- Over 474,953 neonates were screened between May 2011 and December 2016.
- 73 cases of cystic fibrosis were diagnosed; 60 through CFNS and 13 by other means.
- Excluding meconium ileus cases, CFNS demonstrated 85.71% sensitivity and 99.78% specificity, with a disease incidence of 1/6,506.
Conclusions:
- The CFNS program is effective in diagnosing most cystic fibrosis cases.
- Results suggest potential areas for algorithm improvement, possibly including the integration of genetic testing to enhance sensitivity and reduce false positives.
Introduction:
Cystic fibrosis neonatal screening (CFNS), based on double determination of immunoreactive trypsinogen ([IRT] [IRT1/IRT2]), has been available in Andalusia since May 2011. If screening is positive, a sweat test is performed, and if that is positive or inconclusive, genetic testing is requested.
Objective:
To analyze CFNS, based on results from the first 4.5 years of the program.
Materials And Methods:
Prospective descriptive study of neonates undergoing CFNS. IRT levels, sweat chloride, and mutations were recorded. Statistical analysis was performed using SPSS 12.0.
Results:
Between May 2011 and December 2016, 474,953 neonates underwent CFNS. Of these, 1,087 (0.23%) had elevated IRT2. Since CFNS was introduced, 73 cases of cystic fibrosis were diagnosed; 60 were diagnosed by positive CFNS, and 13 were diagnosed by other means. In one case, the patient developed a typical clinical picture of cystic fibrosis, but had not undergone CFNS at the decision of the parents; the remaining 12 had a negative CFNS (false negatives). Of these, one patient was diagnosed before symptoms developed, as his twin brother had a positive CFNS result; another had chloride at the upper limit of normal, and was subsequently diagnosed with genetic testing before symptoms appeared; and 10 patients developed clinical signs and symptoms. Excluding patients with meconium ileus, sensitivity and specificity of the CFNS program were 85.71% and 99.78%, respectively. The incidence of the disease in Andalusia is 1/6,506 live births.
Conclusion:
These results are a basis for reflection on possible areas for improvement of the CFNS algorithm, and thought may be given to the introduction of genetic studies to increase sensitivity and reduce false positives.
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