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2021年郑州市新生儿苯丙酮尿症筛查情况分析 被引量:1

Result of the screening of phenylketonuria in newborn infants in Zhengzhou in 2021
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摘要 目的分析2021年郑州市新生儿苯丙酮尿症(PKU)的筛查情况。方法选取2021年1月至2021年12月郑州市各新生儿疾病筛查中心辖区出生的活产新生儿100971例为筛查对象,采集符合标准的血样,送至新生儿疾病筛查中心进行统一检测,采用化学荧光法检测滤纸干血斑上苯丙氨酸浓度,筛选出阳性患儿,并召回复诊,对确诊结果进行分析。结果郑州市2021年新生儿PKU筛查总数为100971例,初筛阳性病例178例,均全部召回,确诊阳性14例,发病率为1/7212;2021年1月至2021年12月郑州市新生儿初筛阳性发生率3月份最高,确诊阳性发生率11月份最高。结论郑州市2021年新生儿仍存在一定的PKU发生风险,后续还应加强管理和健康宣传,做到早筛查、早诊断、早治疗。 Objective To analyze the result of the screening of neonatal phenylketonuria(PKU)in Zhengzhou in 2021.Methods 100971 live births born in the districts of various neonatal disease screening centers in Zhengzhou from January 2021 to December 2021 were selected as screening objects.Qualified blood samples were collected and sent to the Newborn Disease Screening Center for unified testing.The phenylalanine concentration on the dry blood spot of filter paper was detected by chemical fluorescence method,and the positive children were screened out,recalled for further consultation,and the diagnosis results were analyzed.Results In 2021,the total number of newborn PKU screening in Zhengzhou City will be 100971,and 178 positive cases will be initially screened,all of which will be recalled.Forteen cases will be confirmed positive,and the incidence rate will be 1/7212.From January 2021 to December 2021,the positive rate of newborn screening in Zhengzhou was the highest in March and the positive rate of confirmed diagnosis was the highest in November.Conclusions There is still certain risk of PKU in the newborn babies in Zhengzhou in 2021.In the future,management and health publicity should be strengthened to achieve early screening,early diagnosis and early treatment.
作者 党晨滢 王雪侠 Dang Chenying;Wang Xuexia(Department of Clinical Laboratory,Women and Infants Hospital of Zhengzhou,Zhengzhou 450000,China)
出处 《临床医学》 CAS 2023年第1期4-6,共3页 Clinical Medicine
关键词 苯丙酮尿症 新生儿疾病筛查 发病率 Phenylketonuria Neonatal disease screening Incidence rate
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