岳阳市新生儿先天性疾病筛查情况分析

An analysis of neonatal screening for congenital diseases in Yueyang city

目的了解岳阳市新生儿疾病筛查和先天性甲状腺功能减低症、苯丙酮尿症的发病情况，为卫生行政管理部门决策提供科学依据。方法对岳阳市1999年1月～2007年12月新生儿筛查资料及同期出生人口情况进行回顾性分析。结果①岳阳市的新生儿总筛查率为16．54％，明显低于沿海经济发达地区水平；岳阳楼区筛查率（49．96％）明显高于本市其它县、区的平均筛查率（13．06％），城乡差别显著（P〈0．01）；②筛查率呈逐年增长趋势（由1999年的0．98％增长到2007年的51．36％）；市级筛查中心成立后，各年平均筛查率（32．59％）显著高于成立之前的平均筛查率（3．11％），P〈0．01；③检出31例先天性甲状腺功能减低症患儿、3例苯丙酮尿症患儿，其检出率分别为1／2169、1／22414，甲状腺功能减低症检出率明显高于国内平均发病率1／3009（P〈0．01）。结论①岳阳市新生儿疾病筛查率偏低，市级新筛中心的成立促进了新筛工作的开展；②岳阳市是先天性甲状腺功能减低症高发地区，应该加强全市的新生儿疾病筛查工作；③新生儿疾病筛查可早期发现先天性甲状腺功能减低症、苯丙酮尿症患儿，对其早期治疗可避免体格和智能发育障碍，是提高人口素质的重要措施。

Objective To investigate prevalence rates of congenital hypothyroidism （CH） and phenylketonuria （PKU） in Yueyang city through neonatal disease screening in order to provide a scientific basis for decision-making of health adminstrative departments. Methods The neonatal screening data over a period from January, 1999 to December ,2007 and birth data in the same period in Yueyang city were analyzed retrospectively. Results （1）The total neonatal screening rate in Yueyang city was 16.54%, which was significantly lower than that of economically developed eastern coastal areas. And the neonatal screening rate （49.96%） in Yueyanglou district of Yueyang city was significantly higher than the average in other counties and prefectures of Yueyang city （ 13.06% ） and there was a significant difference between urban and rural areas in Yueyang city （P 〈0.01 ） ;（2）The neonatal screening rate in Yueyang city was increased year by year（from 0.98% in 1999 to 51.36% in 2007 ）. The average yearly neonatal screening rate after establishment of Yueyang Municipal Neonatal Screening Center（32.59% ） was significantly higher than that before establishment of the center （3.11% ） （ P 〈 0.01 ） ; （3）In the 9-year period, 31 children with CH and 3 children with PKU were identified totally, the detectable rates of CH and PKU were 1/2 169 and 1/ 22 414 respectively, of which, the detectable rate of CH was significantly higher than the national average （ 1/3 009） （P 〈 0.01 ）. Conclusion （1） The neonatal screening rate in Yueyang city is comparatively lower. Establishment of municipal neonatal screening center promotes development of neonatal screening in the city; （2）Yueyang city is highly incident area of CH, so neonatal screening in the city should be strengthened; （3） Neonatal screening can early diagnose and treat those children with CH and PKU, which provide a possibility to avoid retardation of physical and mental development of the child, so it is an effective measure to improve quality of the population.