成都市1992-2008年新生儿遗传代谢病筛查分析

Analysis of neonatal screening for inherited metabolic diseases in Chengdu： 1992 to 2008

目的 分析和总结成都市新生儿遗传代谢病筛查状况.方法 对成都市1992-2008各产科执业单位送交的新生儿遗传代谢病筛查标本,采用国家推荐的时间分辨免疫荧光分析法、酶免疫荧光分析法和酶联免疫吸附法三种实验方法 进行促甲状腺激素浓度测定;用荧光分析法、定量酶法、细菌抑制法测定血斑苯丙氨酸浓度.结果 成都市1992-2008年底共筛查新生儿520 116名.全市筛查率从1992年的2.58%提高到2008年93.71%;趋势χ2=-2541507.00,P〈0.001;可疑病人复查率逐年提高到2008年的97.26%,趋势χ2=-723.74,P〈0.001,有显著性差异.17年来共确诊先天性甲状腺功能减低症患儿251名,苯丙酮尿症患儿26名,经过积极治疗大部分患儿智能发育达到正常同龄水平.结论 通过新生儿遗传代谢病筛查使先天性甲状腺功能减低症、苯丙酮尿症患儿得到了早期诊断和治疗,从而避免或减少了其智力低下的发生.

Objective To analyze and summarize the neonatal screening for inherited metabolic diseases in Chengdu from 1992 to 2008. Methods Neonatal screening was conducted by all obstetrical departments in Chengdu from 1992 to 2008. Thyrotropic-stimulating hormone （TSH） was determined by using time-resolved fluorescence immunoassay （Fr-FIA）, Fluorescene enzyme immunoassay （FEIA） and enzyme linked immunosorbent assay （ELISA） , and phenylketonuria （PKU） was detected with fluorimetrie analysis, quantitative enzymatic and bacterial inhibition assay （BIA）. Results From 1992 to 2008 520116 newborns were screened, and 251 cases of congenital hypothyroidism （CH） and 16 cases of PKU were detected. The intellectual development of most of cases reached that of same-aged normal neonates after receiving active treatment. Conclusion By neonatal screening, neonates with CH or PKU have received early diagnosis and treatment, therefore the incidence of mental retardation is avoided or reduced.