陕西省安康地区新生儿苯丙酮尿症筛查实验切值的研究

Study on the cut-off value of screening test for phenylketonuria of neonate in Ankang area of Shanxi province

目的探索安康地区新生儿苯丙酮尿症筛查实验的切值。方法以安康地区出生的新生儿为筛查对象,于出生后48~72 h,充分哺乳6次后采取足跟血,应用PerkinElmer Wallac 1420 Victor2多标记免疫测定仪检测标本中苯丙氨酸含量。结果根据安康地区2010年6月至2011年1月10 390例新生儿苯丙酮尿症筛查的数据,确定安康地区新生儿苯丙酮尿症的筛查切值为121.39μmol/L。结论安康地区新生儿苯丙酮尿症的筛查切值略低于新生儿疾病筛查技术规范（2010年版）规定的参考切值122.00μmol/L和试剂盒初始的切值128.10μmol/L。为降低假阴性率,筛查实验切值修改为121.39μmol/L。

Objective To study the cut-off value of screening test for phenylketonuria（PKU） of neonate in Ankang area.Methods The newborns in Ankang region were chosen as the screening objects.The heel blood was collected from 10 390 newborns after sufficient suckling when they were 48-72 hours old.The concentrations of phenylalanine in the samples were detected by PerkinElmer Wallac 1420 Victor2 Multi-analyte assay.Results A total of 10 390 newborns were screened from Jun 2010 to Jan 2011,and the cut-off value of phenylalanine of neonatal screening for PKU was 121.39 μmol/L in Ankang region.Conclusion The cut-off value of phenylalanine of neonatal screening for PKU in Ankang region is slightly lower than the cut-off value 122.0 μmol/L that was provided in neonatal screening specification（2010 edition） and the initial value in the manual of the reagent kit 128.10 μmol/L.For decreasing the false-negative rate of neonatal screening for PKU,the cut-off value is reduced to 121.39 μmol/L.