抚州地区5824例串联质谱新生儿疾病筛查结果分析

Analysis of screening results of 5824 neonatal diseases by tandem mass spectrometry in Fuzhou area

目的 调查抚州市5824例新生儿遗传代谢病(Inherited Metabolic Disorders, IMD)的串联质谱筛查状况。方法 收集抚州市县区内22家医院出生的5824例足月分娩的活产新生儿进行IMD的串联质谱检测,根据检测结果统计抚州市新生儿IMD患病率,并进行疾病分型分类。结果 2022年3月~2023年5月在抚州市新生儿疾病筛查中心采用串联质谱筛查活产儿5824例,初筛阳性278例(4.77%),召回265例。召回新生儿复查可疑阳性42例,再次召回阳性11例,即最终确诊IMD11例,总阳性预测值3.96%,发病率约0.199%。11例确诊为IMD的新生儿,检出氨基酸代谢障碍最多,其中苯丙氨酸血症占36.36%,瓜氨酸血症Ⅰ型占18.18%,其次为有机酸血症、脂肪酸代谢障碍。结论 抚州市新生儿IMD以氨基酸代谢障碍为主,早期采用串联质谱检查有助于早期发现,及时治疗。

Objective To investigate the tandem mass spectrometry screening status of 5824 neo-nates with Inherited Metabolic Diseases(IMD)in Fuzhou City.Methods 5,824 live newborns born at full-term delivery in 22 hospitals in Fuzhou City county were collected for tandem mass spectrometry testing of IMD,and the prevalence of IMD in newborns in Fuzhou City was statisti-cally calculated based on the results of the test,and classified by disease typing.Results From March 2022 to May 2023,5,824 live births were screened by tandem mass spectrometry at the Newborn Disease Screening Center of Fuzhou City,with 278(4.77%)initially screened positive-ly and 265 recalled.Forty-two newborns were recalled for review of suspected positives and 11 were recalled again for positives,meaning that 11 cases of IMD were finally diagnosed,with a to-tal positive predictive value of 3.96%and a prevalence rate of about 0.199%.Eleven newborns diagnosed with IMD had the highest number of detected disorders of amino acid metabolism,with phenylalaninemia accounting for 36.36%of the total,citrullinemia type I accounting for 18.18%of the total,followed by organic acid disorders,fatty acid metabolism disorder.Conclusion IMD in newborns in Fuzhou City is mainly characterized by amino acid metabolism disorders,and the early use of tandem mass spectrometry is helpful for early detection and timely treatment.