摘要
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 screening and follow -up results of neonatal diseases in Dongguan city from 2001 to 2010, evaluate the efficacy and economic benefit of screening of neonatal diseases conducted by Dongguan screening center of neonatal diseases, assess its importance for improving the quality of population. Methods： The screening results of congenital hypothyroidism （ CH）, phenylketonuria （ PKU）, and glucose - 6 - phosphate dehydrogenase （G6PD） deficiency from Dongguan screening center of neonatal diseases from 2001 to 2010 were analyzed retrospectively, then the screening network of all the obstetric hospitals in Dongguan city was established, all the neonates were selected as study objects, after breast feeding for 72 hours, heel blood specimens of the neonates were obtained to detect thyroid stimulating hormone （TSH） concentration, phenylalanine level, and G6PD activity. Reexamination of serum samples was conducted a- mong the cases with positive screening results. Results： A total of 771 083 neonates were screened in Dongugan city from 2001 to 2010, 277 neonates were diagnosed as CH definitely, the incidence was 1/2 784,253 neonates were followed up, the follow - up rate was 91.34% ; 30 neonates were diagnosed as PKU, the incidence was 1/25 703,25 neonates were followed up, the follow - up rate was 83.33% ; 26 091 neonates were diagnosed as G6PD deficiency, the incidence was 1/30, 23 522 neonates were followed up, the follow- up rate was 90. 15%. After early diagnosis and treatment, the physical development and intelligent development of the neonates with CH had no abnormality. Conclusion： Screening neonatal diseases is one of the effective measures of early diagnosis of CH, PKU, and G6PD deficiency, establishing effective screening network can improve screening rate and reduce misdiagnosis rate effectively, early diagnosis and early treatment can prevent mental retardation, physical maldevelopment, and injuries to other organs effectively.
出处
《中国妇幼保健》
CAS
北大核心
2012年第16期2457-2459,共3页
Maternal and Child Health Care of China
