Results of neonatal screening for cystic fibrosis (18-year follow-up)

   Early diagnosis of cystic fibrosis (CF) using neonatal screening (NS) allows for early initiation of therapy and regular follow-up.

   The aim of the study was to compare health indicators of 12–18-year-old children with CF in the Moscow region before and after the introduction of the NS in the Russian Federation.

   Methods. Patients (n = 63; age 12 – 18 years) with CF, genotype F508del/F508del, residents of the Moscow region, were divided into 2 groups: the diagnosis in patients of group 1 (n = 21) was established based on clinical manifestations before the introduction of the NS program in the Russian Federation (data from the CF patient registers for 2011 and 2012); the diagnosis in group 2 (n = 42) was based on the NS results (data from the CF patient register for 2022).

   Results. After the introduction of the NS, the median (Me) age at diagnosis decreased from 3.0 (0.5; 3.5) years in patients of group 1 to 0.2 (0.1; 0.4) years in group 2 (p = 0.001). A significant improvement in the parameters of external respiration function was noted in the 2^nd group: the Me (Q1 – Q3) of the forced vital capacity was 89.0 % (80.0; 100.0) predicted vs. 78.0 % (63.7; 89.9) predicted in the 1^st group (p = 0.015), the forced expiratory volume in 1 second was 87.0 % (73.0; 99.0) predicted in the group 2 vs 64.0 % (52.1; 82.0) predicted in group 1 (p = 0.004). A decrease in the incidence of chronic Pseudomonas aeruginosa infection was revealed: 6 % (28.6) patients in group 1 vs 1 (2.4 %) in group 2 (p = 0.002). No cases of chronic Burkholderia cepacia complex infection were registered in group 2, while in group 1 there were 23.8 % of such patients (p = 0.001). The use of inhaled antibacterial drugs (ABD) decreased from 71.4 % in 2011 to 46.3 % in 2022 (p = 0.049), intravenous antibacterial therapy from 90.5 % to 22.0 % (p < 0.001) and oral ABD (p = 0.005). The use of ursodeoxycholic acid decreased (p = 0.032). The number of patients with chronic polypous rhinosinusitis decreased from 57.1 % to 31.0 % (p = 0.045).

   Conclusion. NS for CF is an effective tool for improving the quality of medical care for patients with CF. Early diagnosis of the disease and follow-up from birth allow achieving target values of physical development and pulmonary function in adolescents. Our findings confirm the need for further development of screening programs and the introduction of modern treatment methods.

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