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目的 总结中国开展新生儿疾病筛查以来苯丙酮尿症 (PKU)和先天性甲状腺功能减低症 (CH)筛查情况 ,报告PKU和CH的发病率 ,探讨新生儿疾病筛查中存在的问题和对策。方法由中华预防医学会儿童保健分会新生儿疾病筛查学组和北京卫生部临床检验中心全国新生儿疾病筛查质量控制中心 ,联合进行PKU和CH的发病率调查。所有筛查对象在出生后 72h针刺足跟采血。PKU筛查采用细菌抑制法或者荧光测定法测定血苯丙氨酸浓度 ,CH筛查采用酶免疫吸附试验、酶免疫荧光分析法或者时间分辨免疫荧光分析法等方法测定促甲状腺素。结果 根据调查和统计 ,中国自 1985年至 2 0 0 1年期间 ,共对 5 8172 80例新生儿进行了PKU筛查 ,检出PKU患儿 5 2 2例。新生儿PKU的发病率为 1∶1114 4。对 5 5 2 4 0 19例新生儿进行了CH筛查 ,检出患儿 1836例 ,发病率为 1∶30 0 9。最近 6年新生儿疾病筛查量平均年递增 4 5 .5 %。结论 中国新生儿疾病筛查近年发展较快 ,在一些大城市 ,如上海市的新生儿筛查覆盖率已经达到 98.3% ,但从总体来看 ,全国的新生儿疾病筛查覆盖率约占 10 %。在发展新生儿疾病筛查工作中 ,要重视筛查工作的质量 ,提高筛查覆盖率 ,在PKU和CH筛查的基础上发展新技术 ,逐步使更多可预防的疾病纳入新生儿疾病筛查项目 ,提高
Objective To summarize the screening of phenylketonuria (PKU) and congenital hypothyroidism (CH) in China since the screening of neonatal diseases, to report the incidence of PKU and CH, to explore the existing problems in neonatal screening and Countermeasures. Methods The incidence of PKU and CH were investigated jointly by the Neonatal Disease Screening Section of Child Health Branch of Chinese Preventive Medicine Society and the National Neonatal Disease Screening Quality Control Center of Clinical Laboratory of Beijing Ministry of Health. All subjects were needle-pricked at 72 hours after birth. PKU screening using bacterial inhibition or fluorescence determination of phenylalanine concentration, CH screening by enzyme immunoassay, enzyme immunofluorescence assay or time-resolved immunofluorescence assay and other methods for the determination of thyrotropin. Results According to the survey and statistics, from 1985 to 2001, a total of 58,172 80 newborns were enrolled in PKU screening and 522 PKU children were detected. The incidence of neonatal PKU is 1: 1114 4. CH screening of 5 5 2 4 0 19 newborns was conducted, and 1836 children were detected with a prevalence of 1:30 0 9. In the recent 6 years, the screening rate of neonatal diseases has increased by an average of 45.5% annually. Conclusion The screening of neonatal diseases in China has been developing rapidly in recent years. In some big cities, such as Shanghai, the coverage rate of neonatal screening has reached 98.3%. However, overall, the screening rate of neonatal diseases in China accounts for about 10% %. In the development of newborn disease screening work, we must attach importance to the quality of screening work to improve screening coverage, based on the screening of PKU and CH to develop new technologies, and gradually bring more preventable diseases into the neoplasm screening Check items to improve