Şaşihüseyinoğlu Ayşe Şenay, Altıntaş Derya Ufuk, Bişgin Atıl, Doğruel Dilek, Yılmaz Mustafa, Serbes Mahir
Departments of Pediatric Allergy and Immunology, Çukurova University Faculty of Medicine, Adana, Turkey.
Departments of Medical Genetics, Çukurova University Faculty of Medicine, Adana, Turkey.
Turk J Pediatr. 2019;61(4):505-512. doi: 10.24953/turkjped.2019.04.006.
Şaşihüseyinoğlu AŞ, Altıntaş DU, Bişgin A, Doğruel D, Yılmaz M, Serbes M. Two years of newborn screening for cystic fibrosis in Turkey: Çukurova experience. Turk J Pediatr 2019; 61: 505-512. The severity of cystic fibrosis (CF) depends on the type of cystic fibrosis transmembrane conductance regulator (CFTR) mutation. The primary goal of newborn screening (NBS) is to decrease morbidity, mortality and associated disabilities. The National NBS for CF programme was initiated in Turkey since 01.01.2015. The aim of this study was to present two years of experience of our CF center which is located in the south of Turkey. The study population comprised of infants who were born in Adana between 1 January 2015 - 31 December 2016, referred to our CF center as part of NBS for CF and performed CFTR gene analysis. The infants were divided into three groups according to laboratory tests and symptoms as CF, CRMS (cystic fibrosis transmembrane conductance regulator-related metabolic syndrome) and false positive NBS. Between January 1, 2015 and December 31, 2016, NBS was performed in 77,437 newborns in Adana. Two hundred seven (0.26%) newborns screened were positive for CF. A total of 184 infants were included to the study. We reported 12 babies as CF with an incidence of 1:6,452. The babies diagnosed as CF constituted 6.5% of positive CF NBS. Rest of study group diagnosed with CRMS/CFSPID (54/184, 29.5%) and false positive (118/184, 64%). Positive predictive value (PPV) of NBS was 6.5%. The most common CFTR mutations were 508del, p.F1052L and p.L997 F. The implementation of CF-NBS program has been successful in Turkey. But it is too early to determine the specificity and sensitivity of the program.
Şaşihüseyinoğlu公司、阿尔廷塔什·杜、比什金·A、多鲁埃尔·D、伊尔马兹·M、塞尔贝斯·M。土耳其两年的囊性纤维化新生儿筛查：Çukurova经验。《土耳其儿科学杂志》2019年；61：505 - 512。囊性纤维化（CF）的严重程度取决于囊性纤维化跨膜传导调节因子（CFTR）突变的类型。新生儿筛查（NBS）的主要目标是降低发病率、死亡率及相关残疾率。自2015年1月1日起，土耳其启动了全国CF新生儿筛查项目。本研究的目的是介绍我们位于土耳其南部的CF中心两年的经验。研究人群包括2015年1月1日至2016年12月31日在阿达纳出生、作为CF新生儿筛查的一部分被转诊至我们CF中心并进行CFTR基因分析的婴儿。根据实验室检查和症状，这些婴儿被分为三组：CF组、CRMS（囊性纤维化跨膜传导调节因子相关代谢综合征）组和假阳性新生儿筛查组。2015年1月1日至2016年12月31日期间，阿达纳对77437名新生儿进行了新生儿筛查。筛查出的207名（0.26%）新生儿CF呈阳性。共有184名婴儿纳入研究。我们报告12名婴儿为CF，发病率为1:6452。被诊断为CF的婴儿占CF新生儿筛查阳性的6.5%。研究组其余部分被诊断为CRMS/CFSPID（54/184，29.5%）和假阳性（118/184，64%）。新生儿筛查的阳性预测值（PPV）为6.5%。最常见的CFTR突变是508del、p.F1052L和p.L997 F。CF - NBS项目在土耳其的实施是成功的。但现在确定该项目的特异性和敏感性还为时过早。
