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目的:探讨建立吉林省新生儿苯丙酮尿症(PKU)筛查实验切值。方法:以吉林省出生新生儿为筛查对象,新生儿出生72 h后充分哺乳,采集足跟血滴于专用滤纸上,采用时间分辨荧光免疫分析方法,检测滤纸干血片苯丙氨酸(Phe)浓度。结果:共计测定新生儿足跟血Phe 30 000例,确定该实验室新生儿PKU筛查切值为1.80 mg/dl。结论:PKU筛查切值为1.80 mg/dl是适合吉林省实际情况的。新生儿足跟血Phe切值的确定为吉林省新生儿PKU的筛查工作提供了依据。
Objective: To explore the establishment of Jilin Province neonatal phenylketonuria (PKU) screening test cut value. Methods: Neonates born in Jilin Province were used as screening objects. The newborn was fully breast-fed 72 hours after birth and heel blood was collected on a special filter paper. The time-resolved fluorescence immunoassay was used to detect phenylalanine Phe) concentration. Results: A total of 30 000 cases of neonatal heel hemorrhage were determined, and the PKU screening value of newborns in this laboratory was determined to be 1.80 mg / dl. Conclusion: The cut-off value of PKU screening of 1.80 mg / dl is suitable for the actual situation of Jilin Province. Neonatal heel blood Phe cut-off value to determine the screening of neonatal PKU in Jilin Province provided the basis.