济宁地区2013—2022年新生儿疾病筛查回顾性分析  

Retrospective analysis of neonatal disease screening in Jining from 2013-2022

作　　者：王双 WANG Shuang(Jining Maternal and Child Health and Family Planning Service Center,Jining,Shandong 272000,China)

机构地区：[1]济宁市妇幼保健计划生育服务中心,山东济宁272000

出　　处：《中国优生与遗传杂志》2023年第11期2334-2337,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对2013—2022年新生儿疾病筛查结果回顾性分析,总结济宁地区开展的先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)、先天性肾上腺皮质增生症(CAH)、葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)4种遗传代谢病的筛查、诊断和治疗结果,为疾病的早期干预提供依据。方法采集新生儿出生72 h~7 d(最迟不超过20 d)的足跟血,制成滤纸干血斑,用时间分辨荧光免疫分析法检测筛查指标,确诊后进行规范治疗和随访。结果2013—2022年济宁地区共筛查978757例新生儿,筛查阳性23151例,召回22508例,阳性召回率97.25%(22508/23151)。确诊4种病遗传代谢病1606例,总发病率为1/609,其中CH 944例,发病率1/1094,阳性预测值为6.16%(944/15334);PKU 128例,发病率1/8134,阳性预测值为16.47%(128/777);CAH 53例,发病率为1/29501,阳性预测值为1.05%(53/5036);G6PD 481例,发病率1/2160,阳性预测值为35.34%(481/1361)。123例进行体格发育及智力测评患儿中,108例(87.8%)体格发育达到中等及以上水平,15例(12.2%)到达中等水平,121例(98.37%)智力发育正常。128例PKU患儿,123例(97.62%)体格及智力发育均在正常水平及以上,3例(2.38%)患儿智力低下,均为家长不配合治疗。53例CAH治疗后,在随访期内生长发育和身高骨龄均在正常范围。G6PD患儿随访期内均无症状。结论济宁地区以CH最常见,其次为G6PD和PKU,CAH发病率较低。通过新生儿疾病筛查,早期发现患儿,及时采取规范的干预和治疗措施,能够有效降低疾病死亡率和残疾发生率。实验室评估各项筛查指标、制定合理切值,可降低假阳性率,提高阳性预测值。Objective Through the retrospective analysis of the screening results of neonatal diseases from 2013 to 2022,the screening,diagnosis and treatment results of congenital hypothyroidism(CH),phenylketonuria(PKU),congenital adrenocortical hyperplasia(CAH)and glucose-6-phosphate dehydrogenase deficiency(G6PD)in Jining,so as to provide the basis for the early intervention of the disease.Methods The heel blood from 72 h to 7 days(no more than 20 days)was collected to make dry blood spots on filter paper,screening indicators were detected by time-resolved fluorescence immunoassay,and standardized treatment and follow-up were performed after diagnosis.Results From 2013 to 2022,a total of 978757 newborns were screened,23151 were screened positive,22508 were recalled,with a positive recall rate of 97.25%(22508/23151).1606 cases,with total incidence of 1/609,CH 944,incidence of 1/1094,positive predictive value of 6.16%(944/15334).PKU128,incidence of 1/8134,positive predictive value of 16.47%(128/777),CAH 53,incidence of 1/29501,1.05%(53/5036).G6PD 481,incidence of 1/2160,35.34%(481/1361).Among the 123 children with physical development and intelligence assessment,108(87.8%)had moderate or above physical development,15(12.2%)reached moderate level,and 121(98.37%)had normal intellectual development.128 children with PKU,123 children(97.62%)had physical and intellectual development at normal level or above,and 3 children(2.38%)had low intelligence,all of which were parents who did not cooperate with the treatment.After 53 CAH treatment,growth and height bone age were in the normal range during the follow-up period.All of the children with G6PD were asymptomatic during the follow-up period.Conclusion CH was the most common in Jining,followed by G6PD and PKU,with a low incidence of CAH.Through neonatal disease screening,early detection of children,timely adoption of standardized intervention and treatment measures,can effectively reduce the incidence of disease mortality and disability.Laboratory evaluation of various screening i

关 键 词：新生儿筛查 先天性甲状腺功能减低症 苯丙酮尿症 先天性肾上腺皮质增生症 葡萄糖-6-磷酸脱氢酶缺乏症 

分 类 号：R722.1[医药卫生—儿科]