新生儿苯丙酮尿症两种实验室筛查方法的质量评价

目的比较筛查新生儿苯丙酮尿症(PKU)的2种检测苯丙氨酸(Phe)的方法——细菌抑制法(B IA)和荧光法。方法参加美国疾病控制中心(CDC)质量评价,分析B IA和荧光法的批内、批间误差及相对偏差,比较2种方法的结果。结果用CDC质控品测得BIA批内变异系数(CV)为14.29%,荧光法为5.85%;用不同浓度质控品测得B IA批间CV分别为25.34%、20.86%、34.78%和25.72%,荧光法为16.46%、13.22%、19.53%和15.41%;B IA的PKU阳性检出率为5.04/10万,荧光法为7.79/10万。结论荧光法较B IA具有更灵敏、准确、可定量、费时少的优点,国内今后应顺应其发展趋势,普及推广运用荧光法筛查新生儿PKU。

Evaluation of two methods for phenylketonuria screening in newborn

Objective To compare two methods[bacterial inhibition assay(BIA)and fluorometric method]of phenylketonuria(PKU)screening for newborn. Methods The ceofficient of variation(CV) within laboratory and between laboratories were determined by the unknow dry spot samples distributed from America center for disease control(CDC) newborn screening quality assurance program. The performance of two methods was compared and evaluated. Results The within-run CV was 14.29% for BIA and 5.85% for fluorometric method.The between-run CV were 25.34%,20.86%,34.78% and 25.72%for BIA by different concentration of quality control,and 16.46%,13.22%,19.53% and 15.41%for fluorometric method,respectively.The incidence was 5.04/100 000 with BIA and 7.79/100 000 with fluorometric method. Conclusions Fluorometric method for PKU newborn screening is more sensitive,less time-consuming and more appropriate for China.