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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 retrospectively analyze the neonatal screening and results of newborns in Rizhao for 8 years, summarize the experience of neonatal screening, improve the effectiveness of screening services, and understand the screening and incidence of neonatal related diseases in our city. Methods The data of congenital hypothyroidism (CH), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), glucose-6-phosphate dehydrogenase (G6PD) screening and recall results were retrospectively analyzed. The screening network of MCH and all obstetric hospitals in all districts and counties was established around Rizhao City Neonatal Screening Center. All newborns born were targeted. Results From January 2007 to December 2014, 245 232 newborns were screened, 129 cases were diagnosed as CH (incidence 0.053%), 33 cases were PKU (incidence 0.013%), 9 cases were CAH and 21 cases were G6PD. Conclusion Neonatal disease screening is one of the effective measures for early diagnosis of congenital hypothyroidism and phenylketonuria, establishing an effective screening and recall network, enabling early diagnosis and treatment of children and effectively preventing children’s mental retardation And hypoplasia and other organ damage, health care institutions should strengthen screening of newborns to further improve screening coverage and improve the quality of the population born.