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目的总结分析深圳市新生儿疾病筛查情况。方法建立深圳市所有产科医院的筛查网络,以非选择性新生儿为对象,在出生72 h,充分母乳后采足跟血,检测促甲状腺激素(TSH)、苯丙氨酸、半乳糖含量和红细胞葡萄糖6磷酸脱氢酶(G-6-PD)活性,筛查覆盖率97.07%。筛查阳性者,以血清标本复查确诊。结果6年多共筛查新生儿325 498人,其中确诊为先天性甲状腺功能减低症(CH)96人,苯丙酮尿症(PKU)12人,半乳糖血症1人,G-6-PD缺乏症1082人。经早期诊断治疗,患儿的智能和体格等发育无明显异常。结论新生儿疾病筛查是CH、PKU、G-6-PD缺乏症和半乳糖血症早期诊断的有效措施之一,采取早期治疗能有效地防止患儿的智力和体格发育低下以及其他器官功能的损害。
Objective To summarize and analyze the screening of neonatal diseases in Shenzhen. Methods A screening network was established in all maternity hospitals in Shenzhen. Non-selective neonatal rats were selected. Breast and blood were collected 72 h after birth. The levels of thyroid stimulating hormone (TSH), phenylalanine and galactose And erythrocyte glucose 6-phosphate dehydrogenase (G-6-PD) activity, screening coverage 97.07%. Positive screening, serum samples reviewed for diagnosis. Results A total of 325 498 newborns were screened over 6 years. Of them, 96 were diagnosed as congenital hypothyroidism (CH), 12 with PKU, 1 with galactosemia, G-6-PD 1082 deficiency. After the early diagnosis and treatment, children with no obvious development of intelligence and physical development. Conclusion Neonatal disease screening is one of the effective measures for early diagnosis of CH, PKU, G-6-PD deficiency and galactosemia. Early treatment can effectively prevent children from having low mental and physical development and other organ functions The damage.