摘要
目的分析基于足跟血干血斑(DBS)检测的莆田市新生儿四病筛查情况及确诊患儿的管理。方法选择2022年7月—2025年6月在本院新筛中心接受四病筛查的52448例新生儿作为研究对象。分析DBS检测用于新生儿四病筛查[甲状腺功能减低症(CH)、葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)、苯丙酮尿症(PKU)、先天性肾上腺皮质增生症(CAH)]的筛查覆盖率、初筛阳性率、召回率、确诊率,并对确诊患儿的管理提出建议对策。结果接受四病筛查的新生儿共52448例,筛查覆盖率99.65%,初筛阳性618例、阳性率1.18%,召回率88.35%,确诊383例,其中49例CH(高促甲状腺激素(TSH)血症76例,警惕进展CH)、330例G6PD、3例PKU、1例CAH。对确诊患儿实施三级管理措施。结论莆田市基于DBS的四病筛查结果高效可靠,结合三级管理措施后或可降低致残率。
Objective To analyze the screening status of four neonatal diseases based on heel-stick dried blood spot(DBS)testing in Putian city and the management of diagnosed infants.Methods The study population comprised 52,448 newborns who underwent screening for four diseases at our hospital's newborn screening center between July 2022 and June 2025.The application of DBS testing in screening for four neonatal diseases—congenital hypothyroidism(CH),glucose-6-phosphate dehydrogenase deficiency(G6PD),phenylketonuria(PKU),and congenital adrenal hyperplasia(CAH)—was evaluated,including screening coverage rate,initial screening positive rate,recall rate,and diagnosis rate.Additionally,suggestions and strategies for the management of diagnosed infants were proposed.Results A total of 52,448 neonates underwent screening for the four diseases,with a screening coverage rate of 99.65%.There were 618 cases positive in the initial screening(positive rate:1.18%),and the recall rate was 88.35%.Ultimately,383 cases were confirmed,including 49 cases of CH(with 76 cases of hyperthyrotropinemia,requiring vigilance for progressive CH),330 cases of G6PD deficiency,3 cases of PKU,and 1 case of CAH.A three-level management measure was implemented for the diagnosed infants.Conclusions The DBS-based screening for the four neonatal diseases in Putian City is efficient and reliable.Combining this screening with three-level management measures may help reduce the disability rate.
作者
韩新容
Han Xinrong(Putian Maternal and Child Health Hospital,Putian,Fujian 351100,China)
出处
《齐齐哈尔医学院学报》
2026年第4期373-377,共5页
Journal of Qiqihar Medical University
关键词
足跟血
干血斑
四病筛查
新生儿
管理
召回率
Heel-stick blood
Dried blood spot
Four-disease screening
Neonates
Management
Recall rate
