新生儿足跟血苯丙氨酸测定在新生儿苯丙酮尿症筛查的切值分析

Determination of phenylalanine in heel blood of newborns in neonatal screening for phenylketonuria

目的分析研究新生儿足跟血苯丙氨酸测定在新生儿苯丙酮尿症筛查的切值。方法对于本地区出生72 h后经过充分的哺乳的新生儿足跟血滤纸标本进行采集,运用荧光法检验滤纸中干血斑的苯丙氨酸(Phe)浓度。通过SPSS 16.0软件行百分位数法筛查切值,并进行分析。结果本地区2017年1月~2017年12出生的10 344例新生儿的苯丙酮尿症筛查数据中苯丙酮尿症的切值为1.94 mg/dl。结论新生儿足跟血苯丙氨酸测定可以为本地区以后开展大规模的新生儿苯丙酮尿症筛查提供一定的依据。

Objective To analysis and study of neonatal heel blood phenylalanine determination in the screening of neonatal phenylketonuria.Methods The samples of neonatal heel blood filter paper were collected after 72 h of birth in this region,and the phalanine(Phe)concentration of dry blood plaque in the filter paper was examined by fluorescence method.SPSS 16.0 software was used to screen the cut value by percentile method,and the analysis was carried out.Results The incidences of phenylketonuria were 1.94 mg/dl in the screening data of 10 344 neonates born in this region from January 2017 to December 2017.Conclusion The determination of phenylalanine in neonatal heel blood can provide a certain basis for the large-scale screening of neonatal phenylpyruvone urinary disease in this region.