Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022-2023).

IF 4 Q1 GENETICS & HEREDITY
Nino Vardosanidze, Nani Kavlashvili, Lali Margvelashvili, Oleg Kvlividze, Mikheil Diakonidze, Saba Iordanishvili, Dodo Agladze
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引用次数: 0

Abstract

Cystic fibrosis (CF) is a chronic, autosomal-recessive disorder caused by mutations in the CFTR gene, leading to thickened secretions that affect multiple organ systems. This study examines the effectiveness of Georgia's national CF screening program, which was initiated in 2012 and includes the measurement of immunoreactive trypsinogen (IRT) levels at birth. An analysis of data from 2022 and 2023 revealed a decrease in follow-up attendance for sweat chloride testing among newborns with elevated IRT levels, from 59.9% to 51.2%. The birth prevalence of cystic fibrosis in Georgia varied, suggesting a need to improve both the accessibility of free testing and the quality of follow-up care. Identified barriers include limited access to screening results for pediatricians and the cost of follow-up tests. Recommendations include incorporating free sweat chloride and genetic testing into the national program, as well as improving community education and coordination with social agencies. The identification of 29 CFTR mutations in patients underscores the importance of continued genetic counseling. Overall, while the screening program shows promise, addressing these barriers is essential to improve outcomes and ensure the timely diagnosis and management of cystic fibrosis in Georgia.

乔治亚州囊性纤维化新生儿筛查和随访过程评估(2022-2023)
囊性纤维化(CF)是一种慢性常染色体隐性疾病,由CFTR基因突变引起,导致分泌物增厚,影响多器官系统。本研究考察了格鲁吉亚国家CF筛查计划的有效性,该计划于2012年启动,包括出生时免疫反应性胰蛋白酶原(IRT)水平的测量。对2022年和2023年数据的分析显示,IRT水平升高的新生儿的汗液氯化物检测随访率从59.9%下降到51.2%。在格鲁吉亚,囊性纤维化的出生患病率各不相同,这表明需要提高免费检测的可及性和随访护理的质量。确定的障碍包括儿科医生获得筛查结果的机会有限以及后续检查的费用。建议包括将免费汗液氯化物和基因检测纳入国家计划,以及改善社区教育和与社会机构的协调。患者中29个CFTR突变的鉴定强调了继续进行遗传咨询的重要性。总的来说,虽然筛查项目显示出希望,但解决这些障碍对于改善结果和确保及时诊断和管理格鲁吉亚的囊性纤维化至关重要。
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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