摘要
目的回顾分析日照市8年间新生儿进行疾病筛查和结果,总结新生儿筛查经验,提高筛查服务的有效性,了解我市新生儿相关疾病的筛查情况和发病率。方法对2007-2014年日照市新生儿疾病筛查中心先天性甲状腺功能低下症(CH)、苯丙酮尿症(PKU)、先天性肾上腺皮质增生症(CAH)、葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)的筛查和召回结果进行回顾性分析,以日照市新生儿筛查中心为中心建立各区县妇幼保健院及所有产科医院的筛查网络,以所有出生的新生儿为对象。结果 2007年1月-2014年12月共筛查新生儿245 232例,确诊CH 129例(发病率为0.053%),PKU 33例(发病率为0.013%),CAH 9例,G6PD 21例。结论新生儿疾病筛查是先天性甲状腺功能低下症、苯丙酮尿症等早期诊断的有效措施之一,建立有效的筛查召回网络,使患儿得到早期诊断和治疗,有效地防止患儿智力和体格发育低下以及其他器官功能的损害,各医疗保健机构应加强新生儿筛查工作,进一步提高筛查覆盖率,提高出生人口素质。
Objective：To analyze the screening and recall results of Congenital Hypothyroidism（CH）and phenylketonuria（PKU）among 245 232 neonates in Rizhao. Methods：The screening results of CH,PKU,CAH,and G6PD were analyzed,and screening network of all maternal and child care service centre and maternity hospital was established by the center of newborn screening centers for disease in Rizhao. Results：245 232 newborn babies have been surveyed,129 have been confirmed as CH patients,and 33 have been confirmed as PKU patients. 9 was confirmed as CAH patients and 21 was confirmed as G6PD patients. Conclusion：The newborn baby screening was the effective action for detecting CH and PKU,and the new established screening network could effective detect the diseases to avoid the damage of bodies. Increasing the screening scope could improve the quality of births.
出处
《中国优生与遗传杂志》
2016年第7期75-76,共2页
Chinese Journal of Birth Health & Heredity
