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目的研究新疆地区新生儿苯丙酮尿症筛查切值。方法对出生72h经充分哺乳后的新生儿采集足跟血滤纸标本,采用荧光法检测滤纸干血斑中苯丙氨酸(Phe)浓度。采用百分位数法确定切值,并应用SPSS13.0软件分析筛查切值。结果根据新疆地区2009年1月至2012年10月82657例新生儿苯丙酮尿症筛查的数据,确定新疆地区的苯丙酮尿症切值为1.95 mg/dl。结论新生儿筛查Phe切值的确立为新疆地区今后大规模开展的新生儿苯丙酮尿症筛查提供了依据。
Objective To study neonatal phenylketonuria screening screening value in Xinjiang. Methods heel blood filter paper samples were collected from neonates who were fully breast-fed at 72 h after birth. The concentration of phenylalanine (Phe) in dried blood spots of filter paper was measured by fluorescence method. The cut-off value was determined using the percentile method, and the cut-off value was analyzed using SPSS 13.0 software. Results According to the screening data of 82 657 neonates with phenylketonuria in Xinjiang from January 2009 to October 2012, the cutoff value of phenylketonuria in Xinjiang was 1.95 mg / dl. Conclusion The establishment of Phe cut-off value for neonatal screening provides the basis for the large-scale screening of phenylketonuria in newborns in Xinjiang.