新生儿疾病筛查分析

目的 :通过筛查早期发现患儿 ,及早确诊治疗 ,预防身心残疾发生。方法 :回顾性分析 2a间 5 0 11例新生儿疾病筛查情况。结果 :5 0 11例新生儿疾病筛查中 ,有 10 7例葡萄糖 -6-磷酸脱氢酶缺乏症 ,发生率为2 .13% ;8例先天性甲状腺功能减退症 ,可疑阳性 ;未发现苯丙酮尿症和半乳糖血症。结论 :新生儿疾病筛查可使某些疾病在临床症状尚未出现之前或表现轻微时得以早期诊断 ,从而可以早期进行治疗 ,避免患儿重要器官如脑、肝、肾等不可逆性的损害所导致的生长及智能发育滞后或死亡

Analysis on Screening of Neonatal Illnesses

Objective: through neonatal screening, to find out illness in early stage, to confirm diagnosis as early as possible and to start with treatment, to prevent physicopsychic deformities in newborns. Method: neonatal illness screening of a total of 5 011 cases of newborns in a 2 years period was analyzed retrospectively. Results: among 5 011 cases of newborns, 107 cases of them were positive for Glucose-6-phosphatase Dehydrogenase Deficiency accounted for 2.13%. 8 cases of them were suspected positive for congenital hypothyroidism. Neither phenyketonuria nor galactosemia was found among them. Conclusion: neonatal diseases screening in a comprehensive measure to enhance population quality at present. It can make early stage diagnosis of some neonatal illnesses before its symptom developed or when it manifested with slight symptoms. It makes some early stage treatment for these illnesses easy. It could also avoid developmental retardation of both body growth and intelligence caused by the irreversible damage of the important organs such as brain, liver, and bones in neonates.