广东省惠州市新生儿疾病筛查干预策略及实施效果分析

目的探讨开展新生儿先天性甲状腺功能减低症（CH）、苯丙酮尿症（PKU）、葡萄糖-6-磷酸脱氢酶缺乏症（G-6-PD）筛查的必要性和可行性，构建一套能早期发现、早期诊断、早期治疗先天性代谢性疾病的方法和干预策略。方法对广东省惠州市119847例新生儿进行先天性疾病筛查，筛查覆盖率为71．3％，成立新生儿疾病筛查领导小组及技术指导小组，建立健全新生儿疾病筛查网络及实行标准化管理，并对新生儿疾病筛查干预实施效果进行分析。结果119847衙中，确诊CH40例（0．03％）、PKU2例（0．0017％）、G-6-PD4326例（3．60％）。G-6-PD的发病率明显高于CH、PKU（χ^2=8．45，P〈0.05）；追踪率达91．6％，阳性召回率达76．8％；对42名患儿进行及时的治疗，避免了智力障碍的发生。缩论惠州市对新生儿三种先天性疾病的预防工作已有成效，需要进一步提高新生儿疾病筛查工作覆盖率。特别是农村地区。将新生儿疾病筛查工作纳入到新农合范围，提高出生人口素质。

Neonatal screening intervention strategies and effect analysis of Huizhou City

Objective To investigate the screening of neonatal congenital hypothyroidism( CH) ,phenylketo-nuria(PKU) ,glucose -6 - phosphate dehydrogenase deficiency(G-6-PD) for need and the feasibility,building methods and intervention strategies for early detection,early diagnosis and early treatment of congenital metabolic diseases. Methods In 119 847 cases with neonatal congenital diseases, screening coverage was 71. 3% , the establishment of the city's leading group for neonatal screening and technical steering group,establish and improve neonatal screening network and the implementation of standardized management, improve the quality of neonatal screening, neonatal screening and intervention in the results were analyzed. Results In 119 847 cases,confirmed of CH 40 cases,the incidence rate was 0.03% ,PKU 2 cases,the incidence rate was 0.0017% ; G-6-PD 4326 cases, incidence rate was 3.60%. The incidence of G-6-PD was significantly higher than CH, PKU ( χ~2= 8.45, P <0.05); tracking rate was 91.6% ,the positive recall rate was 76. 8% ;42 children with timely treatment,avoiding the occurrence of mental retardation. Conclusion Three kinds of congenital disease prevention was effective, the need for further work to carry out neonatal screening coverage .particularly in rural areas, will be included in neonatal screening to the new rural cooperative medical coverage and improving the quality of newborn babies in Huizhou City.