新生儿苯丙酮尿症筛查切值的探讨

目的探讨四川省新生儿疾病筛查中心实验室苯丙酮尿症筛查切值。方法四川省新筛中心片区市县,2009年1～12月活产婴儿,出生72h并吃足6次奶后,取其足跟血于滤纸上,采用荧光分析法测定Phe浓度。结果 2009年共测定215177例标本,其Phe浓度分布近似呈正态分布,确诊苯丙酮尿症患儿8例,高苯丙氨酸血症20例。制定出四川省新筛中心实验室荧光法测定新生儿足跟滤纸干血片Phe浓度的参考切值为1.8mg/dl。结论四川省新筛中心新制定的Phe参考切值筛查苯丙酮尿症具有可行性。

Discussion on the cut off value of neonatal screening for phenylketonuria(PKU)

Objective To study the cut off value of neonatal screening for phenylketonuria in the centre of neonatal screening of Sichuan.Methods Fluorometric assay was applied to detect the concentration of phenylalanine （Phe） in filter paper dried blood spot samples which were collected from the newborns 72 hours after birth and having drunk enough milk for at least 6 times.These neonates born in 2009 in parts of Sichuan.Results 215177 newborn babies were surveyed.The distribution of the Phe consistency was similar to normal distribution.8 babies were confirmed as PKU patients,and 20 babies were Hyperphenylalaninemia.The cut off value of screening was 1.8mg/dl by Fluorometric assay in the centre of neonatal screening of Sichuan.Conclusion The new cut off value can be used to screen phenylketonuria in the centre of neonatal screening of Sichuan.