中国妇幼健康研究2026，Vol.37Issue(9)：69-73,5.DOI:10.3969/j.issn.1673-5293.2026.09.010
秦皇岛地区新生儿足跟血遗传代谢病筛查结果及预后分析
Screening results and prognostic analysis of newborn heel blood for inherited metabolic diseases in the Qinhuangdao region
摘要
Abstract
Objective To analyze the screening results and prognosis of inherited metabolic diseases identified through newborn heel blood screening in the Qinhuangdao region.Methods A total of 107 462 newborns who underwent heel blood screening for inherited metabolic diseases at the Genetic Eugenics Laboratory of Maternal and Child Care Center of Qinhuangdao from January 2018 to December 2024 were enrolled in this study,and their screening results and prognosis were analyzed.Results Among the 107 462 newborns,3 439 tested positive in the initial screening,yielding an initial positive rate of 3.20％.A total of 3,401 cases were recalled for confirmatory testing,with a recall rate of 98.90％,and 32 cases were finally diagnosed with inherited metabolic diseases,corresponding to an incidence rate of 0.030％.The incidence rate of inherited metabolic diseases detected through newborn heel blood screening fluctuated between 2018 and 2024.The 32 confirmed cases comprised phenylketonuria,isobutyryl-CoA dehydrogenase deficiency,primary carnitine deficiency,propionic acidemia,and methylmalonic acidemia,with incidence rates of 0.015％,0.001％,0.005％,0.001％,and 0.008％,respectively.All 16 cases of phenylketonuria showed elevated levels of phenylalanine(Phe)and the phenylalanine/tyrosine(Phe/Tyr)ratio.The single case of isobutyryl-CoA dehydrogenase deficiency exhibited elevated levels of butyrylcarnitine(C4)/acetylcarnitine(C2)and C4/propionylcarnitine(C3).All 5 cases of primary carnitine deficiency showed decreased free carnitine(C0)levels.The single case of propionic acidemia presented with elevated C3 and C3/C2 levels.Among the 9 cases of methylmalonic acidemia,8 showed elevated levels of C3,C3/C2,C3/C0,and isovalerylcarnitine(C5),while 1 case did not show any abnormal elevations.With a median followup of 4.6 years(range:0.5-6.5 years),among the 32 children with inherited metabolic diseases,1(3.13％)died,7(21.88％)experienced developmental delay,and the remaining 24(75.00％)developed normally.Conclusion A certain proportion of newborns in the Qinhuangdao region have inherited metabolic diseases,with phenylketonuria being the most common.These conditions can be detected using specific biomarkers identified by tandem mass spectrometry.Early detection,diagnosis,and treatment significantly improve patient outcomes.关键词
新生儿/足跟血/秦皇岛/遗传代谢病/筛查/预后Key words
newborn/heel blood/Qinhuangdao/inherited metabolic disease/screening/prognosis分类
医药卫生引用本文复制引用
姜珊,吴红丽,闫鹏跃,刘敬华,李涵羽..秦皇岛地区新生儿足跟血遗传代谢病筛查结果及预后分析[J].中国妇幼健康研究,2026,37(9):69-73,5.基金项目
秦皇岛市科学技术研究与发展计划项目(202401A026) （202401A026）
