Two years of newborn screening for cystic fibrosis in Turkey: Çukurova experience

Özet

The severity of cystic fibrosis (CF) depends on the type of cystic fibrosistransmembrane conductance regulator (CFTR) mutation. The primary goal ofnewborn screening (NBS) is to decrease morbidity, mortality and associateddisabilities. The National NBS for CF programme was initiated in Turkey since01.01.2015. The aim of this study was to present two years of experience ofour CF center which is located in the south of Turkey. The study populationcomprised of infants who were born in Adana between 1 January 2015 - 31December 2016, referred to our CF center as part of NBS for CF and performedCFTR gene analysis. The infants were divided into three groups according tolaboratory tests and symptoms as CF, CRMS (cystic fibrosis transmembraneconductance regulator-related metabolic syndrome) and false positive NBS.Between January 1, 2015 and December 31, 2016, NBS was performed in77,437 newborns in Adana. Two hundred seven (0.26%) newborns screenedwere positive for CF. A total of 184 infants were included to the study. Wereported 12 babies as CF with an incidence of 1:6,452. The babies diagnosed asCF constituted 6.5% of positive CF NBS. Rest of study group diagnosed withCRMS/CFSPID (54/184, 29.5%) and false positive (118/184, 64%). Positivepredictive value (PPV) of NBS was 6.5%. The most common CFTR mutationswere 508del, p.F1052L and p.L997 F. The implementation of CF-NBS programhas been successful in Turkey. But it is too early to determine the specificityand sensitivity of the program.