清远地区2016年～2018年新生儿PKU筛查结果分析

Analysis of neonatal phenylketonuria screening in Qingyuan from 2016 to 2018

目的回顾性分析清远市2016~2018年142 751例新生儿苯丙酮尿症筛查和召回结果。方法新生儿出生72h后,充分哺乳8次以上的新生儿为对象,采足跟血用茚三酮-荧光法进行苯丙氨酸含量的检测。结果在142 751例新生儿中,初筛阳性1431例,召回阳性复查1377例,召回率为96.23%,确诊3例,发病率为1/47 584;清城区筛查45 415名,确诊1例,发病率为1/45 415,清新区筛查14 556名,确诊2例,发病率为1/7278。结论新生儿苯丙酮尿症筛查是预防PKU患儿智力和体能发育低下及其它器官损害的有效方法,可以早期检出患儿,从而进行早期诊断和早期治疗,防止其发病从而降低对智能发育及体格发育的影响,对提高儿童健康水平和提高出生人口素质具有重要深远的意义。

Objective:A retrospective analysis of the neonatal screening for Phenylketonuria(PKU)and positive recalling for 142 751 newborns from 2016 to 2018 in Qingyuan. Methods:At 72 hours after birth and breast-feeding more than 8 times,the newborn’s blood samples of the heel of the neonates were tested by Ninhydrin fluorescence assay. Results:A total of 556 992 cases was screened in the past 3 years,there were 1431 positive cases in primary screening,1377 cases of which were recalled and the recall rate reached 96.23%,3 cases were diagnosed,thus the incidence of this disease was 1/47 584.45 415 newborns were screened in Qingcheng area,1 cases were diagnosed,the incidence of this disease was 1/45 415. 14 556 newborns were screened in Qingxin area,2 cases were diagnosed,the incidence of this disease was 1/7278. Conclusion:Newborn screening provides an effective method for the diagnosis of PKU,it is efficient to prevent the mental and physical development of children by PKU.It can avoid children getting disabled by PKU and improve the birth population quality of Qingyuan.