目的：总结内蒙古自治区2010年到2018年新生儿遗传代谢病筛查以来苯丙酮尿症(PKU)和先天性甲状腺功能减低症(CH)的筛查情况,与全国多地的筛查情况对比,探讨内蒙古地区新生儿遗传代谢病筛查存在的问题及未来发展对策。方法：由内蒙古自治区新生儿疾病筛查中心获得PKU和CH的筛查数据。所有筛查对象在出生后72h针刺足跟采血。PKU采用时间分辨免疫荧光法测定血液苯丙氨酸浓度,CH筛查采用时间分辨免疫荧光分析法测定促甲状腺素浓度。结果：内蒙古2010年至2018年期间,共对834868例新生儿进行了PKU和CH筛查,平均筛查率为42.77%,PKU和CH初筛阳性召回率为84.02%和85.02%,共检出患儿106例(确诊率为1/7876),检出CH患儿207例(确诊率为1/4033)。与国内多地比较,内蒙古地区筛查覆盖率和召回率相对较低,PKU发生率相对较高,CH发生率相对较低。结论：内蒙古自治区新生儿疾病筛查有效预防了PKU和CH导致的出生缺陷,目前筛查覆盖度和召回复查率与国内大部分地区相比较低,应加强管理和宣传,通过多种途径提高新生儿疾病筛查率和复查率。

Objective: To summarize the screening of phenylketonuria (PKU) and congenital hypothyroidism (CH) in newborns in Inner Mongolia from 2010 to 2018. Compared with some regions of China, this paper discusses the problems presented in neonatal disease screening and the countermeasures for its future development. Methods: The screening data of PKU and CH were obtained from the neonatal disease screening center of Inner Mongolia autonomous region. All screening subjects were pricked at 72h after birth to collect blood from the heel.The concentration of phenylalanine in blood was determined by time-resolved immunofluorescence in PKU test, and the concentration of thyrotrophin in CH screening was determined by time-resolved immunofluorescence analysis. Results: A total of 834,868 newborns were screened for PKU and CH between 2010 and 2018, with an average screening rate of 42.77%,and the recall rate of PKU and CH positive was 84.02% and 85.02%, with a total of 106 cases ( diagnosis rate of 1/7876) and 207 cases (diagnosis rate of 1/4033), respectively. Compared with other places in China, the screening coverage and recall rate in Inner Mongolia are relatively low, the incidence of PKU is relatively high, and the incidence of CH is relatively low. Conclusion: Neonatal disease screening in Inner Mongolia has effectively prevented birth defects caused by PKU and CH. Currently, the screening coverage and recall rate are relatively low compared with most regions in China. Therefore, management and publicity should be strengthened to improve the neonatal disease screening rate and recall rate through various channels.

,项目名称《新型化合物PTC124在细胞和动物模型上对苯丙酮尿症致病基因PAH无义突变的校正研究》,项目编号：81860168.