新生儿PKU和CH疾病筛查对减少出生缺陷的临床意义研究  

Clinical study on reducing birth defects by screening for neonatal PKU and CH diseases

作　　者：李雪琴[1] 张慧楠[2] 吴书祎 文静[2] 罗忠礼[2] LI Xueqin;ZHANG Huinan;WU Shuyi;WEN Jing;LUO Zhongli(Department of Clinical Laboratory,Leshan Maternal and Child Health Hospital,Leshan,Sichuan 614000,China;Molecular Medicine and Oncology Research Center,Basic Medical College,Chongqing Medical University,Chongqing 400016,China)

机构地区：[1]四川省乐山市妇幼保健院检验科,四川乐山614000 [2]重庆医科大学基础医学院分子医学与肿瘤研究中心,重庆400016

出　　处：《国际检验医学杂志》2019年第5期565-567,571,共4页International Journal of Laboratory Medicine

基　　金：国家自然科学基金资助项目(31540019);重庆医科大学科研培育基金资助项目(自然科学类)(201417);重庆医科大学基础医学院苗圃基金资助项目(JC201514)

摘　　要：目的通过对新生儿进行苯丙酮尿症(PKU)和先天性甲状腺功能减低症(CH)筛查,考察乐山市新生儿疾病筛查对减少出生缺陷的临床意义。方法收集2012-2015年乐山市各采血地区筛查总数和医疗机构出生的婴儿总数,血片全部为验收合格的血片,根据《新生儿疾病筛查技术规范》,分别将所有参与筛查的新生儿中最后被确诊为CH或PKU的患儿作为统计对象。结果新生儿的筛查率从2012年的91.47%上升至2015年的94.10%,PKU平均发病率为1/25 448,CH平均发病率为1/2 544。结论新生儿早期疾病筛查能够有效筛查出PKU和CH可疑患儿,结合确诊实验,从而实现早期诊断与治疗,对降低出生缺陷、提高人口素质有重要现实意义。Objective To investigate the clinical significance of neonatal screening for phenylketonuria(PKU)and congenital hypothyroidism(CH)in Leshan city in reducing birth defects.Methods The total number of screening and the total number of infants born in medical institutions in Leshan City were collected from 2012 to 2015.All the blood tablets were qualified for acceptance.According to the Technical Specification for Neonatal Disease Screening,the children who were finally diagnosed as CH or PKU were selected as statistical objects.Results The detection rate of newborns were increased from 91.47% in 2012 to 94.01% in 2015.The average incidence of PKU was 1/25448,and the average incidence of CH was 1/2544.Conclusion Early screening of neonatal diseases can effectively screen suspicious children of PKU and CH.Combined with the confirmation test,early diagnosis and treatment can be achieved.It has important practical significance to reduce birth defects and improve the quality of the population.

关 键 词：新生儿筛查 苯丙酮尿症 先天性甲状腺功能减低症 血片法 

分 类 号：R722.1[医药卫生—儿科] R446.1[医药卫生—临床医学]