235361例新生儿疾病筛查情况分析

目的调查黄冈市2016年1月1日—2019年6月30日新生儿遗传代谢性疾病的筛查结果。方法采用实时数据分析调查的方法,对黄冈市2016年1月1日—2019年6月30日出生并在黄冈市妇幼保健院进行遗传代谢病5项先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)、葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症、先天性肾上腺皮质增生症(CAH)和地中海贫血]检测的235361例活产新生儿的结果及确诊数据进行分析和统计。结果2016年1月1日—2019年6月30日期间共筛查235361例新生儿,确诊CH患儿61例,发病率约为1:3858;确诊PKU患儿14例,发病率约为1:16812;确诊G6PD缺乏症(蚕豆病)患儿179例,发病率约为1:1315;确诊CAH患儿9例,发病率约为1:26151;确诊地中海贫血患儿446例,发病率约为1:528。结论黄冈市CH、PKU、G6PD缺乏症、CAH及地中海贫血发病率均低于全国平均发病率。加强健康教育和普及,通过分析质量控制指标加强质量管理,规范筛查流程,减少漏筛,提高召回确诊病例,不断提高服务质量。

Analysis of 235361 Cases of Neonatal Disease Screening

Objective To investigate the incidence of genetic metabolic diseases of newborns in Huanggang from January 1,2016 to June 30,2019.Method A data of 235361 detection results of five genetic metabolic diseases,which are Congenital Hypothyroidism(CH),Phenylketonuria(PKU),Glucose-6-phosphate Dehydrogenase(G6PD)Deficiency,Congenital Adrenocortical Hyperplasia(CAH)and Thalassemia,from newborns who were born in Huanggang city from January 1,2016 to June 30,2019 was collected and analyzed.Results A total of 235361 newborns were screened from 2016 to 2019.61 children with CH were diagnosed with an incidence of 1:3858,14 children with PKU were diagnosed with an incidence of 1:16812,179 children with G6PD deficiency(favism)were diagnosed with an incidence of 1:1315,9 children with CAH were diagnosed with an incidence of 1:26151,446 children with thalassemia were diagnosed with an incidence of 1:528.Conclusion The incidence of CH,PKU,G6PD deficiency,CAH and thalassemia in Huanggang was lower than the national average.Strengthening healthy education and popularization,strengthening quality management by analyzing quality control indicators,could cause standardizing screening process,reducing missed screening cases,improving recalling of confirmed cases,and continuously improving service quality.