盘锦市2016-2021年新生儿先天性甲状腺功能减低症和苯丙酮尿症筛查情况分析  

Analysis of neonatal congenital hypothyroidism and phenylketonuria screening in Panjin City from 2016 to 2021

作　　者：李楠 LI Nan(Panjin Maternal and Child Health Care and Family Planning Service Center,Liaoning Province,Panjin 124010,China)

机构地区：[1]辽宁省盘锦市妇幼保健和计划生育服务中心,辽宁盘锦124010

出　　处：《妇儿健康导刊》2022年第10期65-67,共3页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

摘　　要：目的分析盘锦市56107名新生儿先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)的筛查结果,从而提升本市新生儿疾病筛查工作的能力,加强干预措施。方法收集2016年1月至2021年12月在本地区定点接生医院出生72 h后且得到充分哺乳的新生儿,收集足跟血于特定滤纸上,采用荧光免疫分析法检测促甲状腺激素(TSH)、苯丙氨酸(Phe)的浓度,进行CH及PKU筛查,统计CH和PKU发病率。结果2016—2021年盘锦市活产儿56657名,筛查新生儿56107名,年均筛查率为99.0%。筛查出可疑病例148例,确诊患儿55例,其中CH 30例,PKU 25例,检出率分别为0.5‰、0.4‰。结论CH和PKU早期诊断对于新生儿疾病筛查是一种极其有效的途径,因而需加强新生儿疾病筛查的力度和公众对筛查的认识,协调各部门密切配合,进而有效提高筛查质量和干预措施,在提高生活质量的同时,减轻对社会和家庭负担。Objective To analyze the screening results of 56107 newborns with congenital hypothyroidism(CH)and phenylketonuria(PKU)in Panjin City,so as to improve the capacity of neonatal disease screening and strengthen the intervention measures.Methods From January 2016 to December 2021,neonates who were fully suckled 72 hours after birth in designated delivery hospitals in this region were collected.Fluorescence immunoassay was used to detect the concentrations of thyroid stimulating hormone(TSH)and phenylalanine(Phe).CH and PKU screening were performed to calculate the incidence of CH and PKU.Results From 2016 to 2021,56657 live births in Panjin City and 56107 neonates were screened,with an average annual screening rate of 99.0%.148 suspicious cases were screened and 55 neonates were diagnosed.Among them,30 cases were CH and 25 cases were PKU.The detection rates were 0.5‰and 0.4‰.Conclusion Early diagnosis of CH and PKU is an extremely effective way for newborn disease screening.Therefore,it is necessary to strengthen the newborn disease screening and the public’s understanding of screening,coordinate the close cooperation of various departments,so as to effectively improve the screening quality and intervention measures,and reduce the burden on society and families while improving the quality of life.

关 键 词：先天性甲状腺功能减低症 苯丙酮尿症 新生儿疾病筛查 

分 类 号：R591.2[医药卫生—内科学]