WS11.4 The significance of a neonatal screening program in the early diagnosis of cystic fibrosis

Abstract

Objectives A national newborn screening (NBS) program for cystic fibrosis (CF) was introduced all over Russia in January 2007. Currently, this is the main method of CF diagnosis in the country and from 140 to 190 CF newborns are diagnosed per year. In the Moscow region NBS is carried out from June 2006. In total 134 CF patients were identified (the end 2014). Methods From the Moscow region CF Patients Register we analyzed the data of all diagnosed CF patients under 18 years old in two different periods: from 1999 to 2005 (before the introduction of NBS in Moscow – Group I) and from 2007 to 2013 (Group II). Results Before the NBS program CF was diagnosed in 83 patients. In the period 2007–2013 CF was diagnosed in 228 CF patients. The average age at diagnosis in Group I was 4.5 years (30% before 12 months), and in Group II – 1.8 years (74% before 12 months). The average age of patients at CF diagnosis in the positive NBS group was 2.3 months, in the infants with false-negative NBS results – 23 months. In Group I meconium ileus (MI) was diagnosed in 5 children (6%), and in Group II – in 27 children (12%). We assume there were much more cases of CF under-diagnosis in MI newborns in Moscow region before 2007. MI patients in Group I were diagnosed as having CF at the age of 1.4 years, and in Group II – 1.7 months. Conclusion Our findings demonstrate both the effectiveness of NBS and a greater awareness of CF nosology among physicians. At the same time, underdiagnosed CF before NBS program, false-negative NBS and sweat testing results, as well as a number of CF health care organization problems in Moscow still influence the diagnosis age of new CF patients.