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目的:分析东莞市10年新生儿疾病筛查和随访结果,评价东莞市新生儿筛查中心开展新生儿疾病筛查的成效和经济效益,以及对提高人口素质的重要性。方法:对2001～2010年东莞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)、葡萄糖6磷酸脱氢酶(G6PD)缺乏症的筛查结果进行回顾性分析,以东莞市新生儿疾病筛查中心为中心建立东莞市所有产科医院的筛查网络,以所有出生的新生儿为对象,在出生72 h充分母乳后,采集足跟血检测TSH浓度、苯丙氨酸、G6PD活性。筛查结果阳性者,以血清标本复查确诊。结果:2001～2010年东莞市新生儿疾病筛查中心共筛查新生儿771 083例,其中确诊为CH 277例,发病率为1/2 784,回访253例,回访率为91.34%;PKU 30例,发病率为1/25 703,回访25例,回访率为83.33%;G6PD缺乏症26 091例,发病率为1/30,回访23 522例,回访率为90.15%。经早期诊断治疗,CH患儿的体格和智力等发育无明显异常。结论:新生儿疾病筛查是CH、PKU、G6PD缺乏症早期诊断的有效措施之一,建立有效的筛查网络能有效提高筛查率和降低漏诊率,做到早诊早治,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。
OBJECTIVE: To analyze the results of 10-year neonatal screening and follow-up in Dongguan and evaluate the effectiveness and economic benefits of screening neonatal screening in Dongguan Newborn Screening Center and its importance to improve population quality. Methods: The screening results of congenital hypothyroidism (CH), phenylketonuria (PKU) and glucose 6 - phosphate dehydrogenase (G6PD) deficiency in Dongguan Neonatal Screening Center from 2001 to 2010 were reviewed Sex analysis, Dongguan City, neonatal screening center for the establishment of all obstetric hospitals in Dongguan screening network to all newborns for the object, after birth 72 full breast milk collected heel blood test TSH concentration, Phenylalanine, G6PD activity. Positive screening results were confirmed by serum sample review. Results: A total of 771 083 newborns were screened from 2001 to 2010 in Dongguan Neonatal Disease Screening Center, of which 277 were diagnosed as CH, with a morbidity of 1/2 784. A total of 253 cases were returned, with a return rate of 91.34%. PKU 30 Cases, the incidence rate of 1/25 703, 25 cases were followed up, the return rate was 83.33%; 26 091 cases of G6PD deficiency, the incidence was 1/30, 23 522 cases were followed up, the return rate was 90.15%. After the early diagnosis and treatment, CH children with no significant abnormal physical and mental development. Conclusion: Neonatal disease screening is one of the effective measures for the early diagnosis of CH, PKU and G6PD deficiency. Establishing an effective screening network can effectively improve the screening rate and reduce the rate of misdiagnosis, so that early diagnosis and early diagnosis and early treatment can be effectively prevented Children with mental and physical hypoplasia and other organ damage.