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目的分析金山区2005-2014年的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(G6PD)、先天性肾上腺皮质增生症(CAH)4种疾病筛查情况、召回率及发病率。方法对新生儿疾病筛查结果进行统计分析。结果 2005-2014年共筛查新生儿52 346例,筛查率97.43%,召回率从2005年56.10%上升到2014年86.05%。确诊CH 24例,发病率1∶2 181;PKU未发生;G6PD 62例,发病率1∶697;CAH 4例,发病率1∶10 803。结论 CH、PKU、G6PD、CAH可以通过新生儿早期筛查,早发现、早诊断和早治疗,避免智力和体格发育低下以及其他器官功能的损害,提高出生人口素质,避免给社会和家庭带来的沉重负担,是降低出生缺陷发生率的有效措施。
Objective To analyze congenital hypothyroidism (CH), phenylketonuria (PKU), glucose-6-phosphate dehydrogenase deficiency (G6PD), congenital adrenal hyperplasia (CAH) 4 kinds of disease screening, recall and incidence. Methods The neonatal screening results were statistically analyzed. Results A total of 52 346 newborns were screened during 2005-2014. The screening rate was 97.43%. The recall rate increased from 56.10% in 2005 to 86.05% in 2014. The diagnosis of CH 24 cases, the incidence of 1: 2 181; PKU did not occur; G6PD 62 cases, the incidence of 1: 697; CAH 4 cases, the incidence of 1:10 803. Conclusions CH, PKU, G6PD and CAH can avoid the impairment of mental and physical development and other organ functions through early screening, early detection, early diagnosis and early treatment of newborn, improve the quality of birth population and avoid bringing social and family loss The heavy burden is to reduce the incidence of birth defects effective measures.