Abstract
Background/ aimSince January 2015, the Cystic Fibrosis Newborn Screening (CFNS) program has been implemented in Turkey. We aimed to evaluate the demographic, clinical, and laboratory data of cases referred from the CFNS program and to determine the most suitable cut-off value for immunoreactive trypsinogen (IRT)-1 and immunoreactive trypsinogen (IRT-2) that are used in the CFNS program in Turkey.Materials and methodsA total of 156 Turkish Caucasian subjects were determined as positive cases during 3 years, from January 2015 to January 2018, and were referred to the pediatric pulmonology clinics of Akdeniz University Hospital, Antalya, Turkey, for the national CFNS program. The evaluation was made considering the IRT-1 and IRT-2 values, demographic characteristics, sweat test results, CFTR genotypes, and diagnoses.ResultsNine patients were diagnosed with cystic fibrosis (CF). Eight were diagnosed with CF-related metabolic syndromes and three were determined to be CF carriers. The ratio of CF to CF-related metabolic syndrome was determined as 1.1:1. Considering the limits of the present CFNS program and the IRT method, the positive predictive value (PPV) for the referred cases was determined as 5.8%. When a cut-off value of 105.6 ng/mL was taken for IRT-1, sensitivity was 100%, specificity was 59%, and PPV was 12.8%. For a cut-off value of 88.75 ng/mL for IRT-2, sensitivity was determined as 90%, specificity as 65%, and PPV as 15.2%.ConclusionThis is the first detailed clinical study to evaluate the data from the CFNS program along the Mediterranean coast of Turkey. As false positive results are extremely high in Turkey, there is an urgent need for revision of the IRT-1 and IRT-2 limits by evaluating the data of the whole country.
Highlights
Newborn screening programs are important in terms of diagnosing disorders in which intervention before symptoms can improve outcomes
We aimed to evaluate the demographic, clinical, and laboratory data of cases referred from the cystic fibrosis newborn screening (CFNS) program and to determine the most suitable cut-off value for immunoreactive trypsinogen (IRT)-1 and immunoreactive trypsinogen (IRT-2) that are used in the CFNS program in Turkey
Considering the limits of the present CFNS program and the IRT method, the positive predictive value (PPV) for the referred cases was determined as 5.8%
Summary
Newborn screening programs are important in terms of diagnosing disorders in which intervention before symptoms can improve outcomes. Cystic fibrosis newborn screening (CFNS) has become the main nucleus of these programs. As the first stage in all CFNS programs, the immunoreactive trypsinogen (IRT). Level is measured in blood samples taken in the first week of life. The use of IRT in cystic fibrosis (CF) was first described by Crossley et al in 1979 [3]. An increased IRT level in the first week of life is a sensitive marker for determination of infants with CF (OMIM 219700), it is not a specific test. There is a need for a second test to increase the specificity and reduce the number of referred infants based on the results of the
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