謝穎 王勇 向世貴

[摘要]目的 分析新生兒疾病篩查開展以來恩施州先天性甲狀腺功能低下癥（CH）和苯丙酮尿癥（PKU）篩查情況、發(fā)病率及召回率。方法 選取2006～2016年出生的恩施州新生兒共290 973例為篩查對(duì)象，進(jìn)行回顧性分析，采用時(shí)間分辨免疫熒光法和免疫熒光法測(cè)定促甲狀腺激素（TSH）和苯丙氨酸（PA）濃度。結(jié)果 篩查2006～2016年新生兒共290 973例，CH的平均檢出率為1∶2575，PKU的平均檢出率為1∶41 568。2006～2016年全州篩查人數(shù)由4508例上升至33 271例，篩查率從15.82%上升至94.43%，CH檢出率由0升高至1∶2218，PKU檢出率由0升至1∶41 568，10年間篩查率及檢出率均顯著性上升;2006～2016年CH可疑陽性患兒平均召回率為79.7%，PKU可疑陽性患兒平均召回率為76.5%，每年可疑陽性患兒的召回率變化無規(guī)律。結(jié)論 恩施州新生兒疾病篩查工作已步入正軌，加強(qiáng)新生兒疾病篩查管理工作，做到早發(fā)現(xiàn)、早診治，從而避免新生兒生長發(fā)育及智力發(fā)育障礙，降低新生兒出生缺陷發(fā)生率。

[關(guān)鍵詞]新生兒;甲狀腺功能減低癥;苯丙酮尿癥;篩查;恩施州

[中圖分類號(hào)] R174? ? ? ? ? [文獻(xiàn)標(biāo)識(shí)碼] A? ? ? ? ? [文章編號(hào)] 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

新生兒疾病篩查（neonatal screening）是指醫(yī)療保健機(jī)構(gòu)在新生兒群體中，用快速、簡便、敏感的檢驗(yàn)方法，對(duì)危及兒童生命、危害兒童生長發(fā)育、導(dǎo)致兒童殘疾的一些先天性疾病、遺傳性疾病進(jìn)行群體篩檢并做出早期診斷早期干預(yù)[1-3]。2006年恩施州成立了新生兒疾病篩查中心，2006～2016年開展了先天性甲狀腺功能減低癥（CH）和苯丙酮尿中（PKU）兩種疾病的篩查，全州篩查人數(shù)逐年上升，篩查率逐年提高，現(xiàn)將恩施州新生兒疾病篩查開展以來的篩查情況進(jìn)行回顧性分析，報(bào)道如下。

1對(duì)象與方法