2006～2016年恩施州新生儿疾病筛查情况分析

谢颖 王勇 向世贵

[摘要]目的 分析新生儿疾病筛查开展以来恩施州先天性甲状腺功能低下症（CH）和苯丙酮尿症（PKU）筛查情况、发病率及召回率。方法 选取2006～2016年出生的恩施州新生儿共290 973例为筛查对象，进行回顾性分析，采用时间分辨免疫荧光法和免疫荧光法测定促甲状腺激素（TSH）和苯丙氨酸（PA）浓度。结果 筛查2006～2016年新生儿共290 973例，CH的平均检出率为1∶2575，PKU的平均检出率为1∶41 568。2006～2016年全州筛查人数由4508例上升至33 271例，筛查率从15.82%上升至94.43%，CH检出率由0升高至1∶2218，PKU检出率由0升至1∶41 568，10年间筛查率及檢出率均显著性上升;2006～2016年CH可疑阳性患儿平均召回率为79.7%，PKU可疑阳性患儿平均召回率为76.5%，每年可疑阳性患儿的召回率变化无规律。结论 恩施州新生儿疾病筛查工作已步入正轨，加强新生儿疾病筛查管理工作，做到早发现、早诊治，从而避免新生儿生长发育及智力发育障碍，降低新生儿出生缺陷发生率。

[关键词]新生儿;甲状腺功能减低症;苯丙酮尿症;筛查;恩施州

[中图分类号] R174          [文献标识码] A          [文章编号] 1674-4721（2019）6（a）-0199-03

[Abstract] Objective To analyze the screening status， incidence and recall rate of congenital hypothyroidism （CH） and phenylketonuria （PKU） in Enshi Prefecture since the application of neonatal disease screening. Methods A retrospective analysis of neonatal disease screening data from 2006 to 2016 in Enshi Prefecture was conducted. Thyroid hormone（TSH） and Phenylalanine （PA） concentrations were measured by time-resolved immunofluorescence and immunofluorescence， respectively. Results From 2006 to 2016， a total of 290 973 neonates were screened by the Neonatal Disease Screening Center of Enshi Prefecture. The average positive detection rate of CH was 1∶2575， and the average positive detection rate of PKU was 1∶41 568. From 2006 to 2016， the number of screenings arose from 4508 to 33 271， and the screening rate increased from 15.82% to 94.43%. The positive rate of CH increased from 0 to 1∶2218. The positive rate of PKU increased from 0 to 1∶41 568. The screening rate and positive rate increased significantly over the ten years. The average recall rate of CH and PKU from 2006 to 2016 was 79.7% and 76.5%， respectively. The tendency of recall rate change was irregular. Conclusion The screening of newborn diseases in Enshi Prefecture is on the right track. In order to reduce the incidence of neonatal growth and metal development disorder， the management of neonatal disease screening should be strengthened. Also， early detection， diagnosis and treatment should be ensured.

[Key words] Neonate; Hypothyroidism; Phenylketonuria; Screening; Enshi Prefecture

新生儿疾病筛查（neonatal screening）是指医疗保健机构在新生儿群体中，用快速、简便、敏感的检验方法，对危及儿童生命、危害儿童生长发育、导致儿童残疾的一些先天性疾病、遗传性疾病进行群体筛检并做出早期诊断早期干预[1-3]。2006年恩施州成立了新生儿疾病筛查中心，2006～2016年开展了先天性甲状腺功能减低症（CH）和苯丙酮尿中（PKU）两种疾病的筛查，全州筛查人数逐年上升，筛查率逐年提高，现将恩施州新生儿疾病筛查开展以来的筛查情况进行回顾性分析，报道如下。

1对象与方法