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

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 indicators and making a reasonable cut value can reduce the false positive rate and improve the positive predictive value.