中国580万新生儿苯丙酮尿症和先天性甲状腺功能减低症的筛查

Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China

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 。

Objectives To summarize neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) in China, to further clarify incidence of the two kinds of diseases in newly born babies, and to explore issues in neonatal screening and their solutions Methods Neonatal screening for PKU and CH was conducted by 39 neonatal screening centers all over the country, sponsored by the Group of Neonatal Screening, Chinese Society of Child Health Care, Chinese Preventive Medical Association and the Center for Neonatal Screening Quality Control Laboratory, National Center for Clinical Laboratories (NCCL) In each infant a heel prick blood sample was collected at 72 hours postnatal onto standard filter paper PKU was screened by bacterial inhibition assay and fluorometric method, and CH was screened by TSH measurement by time resolved fluorescence immunoassay (TRFIA), fluorescence enzyme immunoassay (FEIA) and enzyme immunoassay (EIA) Results From 1985 to 2001 in China, totally of 5 817 280 newborns were screened for PKU, 522 cases of PKU detected with an incidence of 1∶11 144, and 5 524 019 newborns were screened for CH, 1 836 cases of CH detected with an incidence of 1∶3 009 Annual average number of newborns screened for congential genetic diseases was increased by 45 5% in recent six years Conclusions Neonatal screening was developed quickly in China in recent years, especially in some developed cities, sucah as Shanghai with a coverage of 98 3% in 2001 But, its coverage was about only 10% in China as a whole In development of neonatal screening, it is necessary to attach more importance to quality of screening and increasing coverage of screening, as well as gradual development of new screening techniques for other neonatal preventable diseases, in addtion to PKU and CH, and their application, and improvement of level of child health care in China