【摘要】 目的总结分析茂名市地区2008~2012年间新生儿先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)和葡萄糖-6-磷酸脱氢酶(G-6PD)缺乏症3种新生儿先天性疾病和遗传病的筛查结果,总结新生儿遗传代谢病筛查的工作进展以及发病情况。方法采用干滤纸片法对全血中的促甲状腺素、苯丙氨酸和G6PD活性进行测定。结果 5年以来共筛查344 763份新生儿血样本,检出CH、PKU和G-6PD缺乏症患儿各202例、2例和25 558例,发病率分别为1/1706、1/172 381和7.41%,CH的发病率明显高于全国1/3009的发病率,G6PD缺乏症的发生率也明显高于全国0.69%的发生率.PKU的发病率则明显低于全国1/11 144的发病率。结论通过新生儿遗传代谢病筛查可避免其对新生儿智能和体格发育的损害。加强新生儿遗传代谢病筛查工作是控制出生缺陷、提高出生人口素质的重要措施。更多还原

【Abstract】 Objective: To summarize and analyze 3 new children congenital and genetic diseases screening results in Maoming City from 2008 to 2010,it includes the newborns with congenital hypothyroidism( CH),phenylketonuria( PKU) and glucose- 6- phosphate dehydrogenase( G- 6PD) deficiency,summarized the progress of neonatal genetic metabolic disease screening and incidence. Methods: The dry filter paper method was used to determining whole blood thyrotropin,phenylalanine and G6PD activity. Results: A total of 5 years were 344 763 newborn screening blood samples,the detection CH,PKU,and G- 6PD deficiency in children of the 197 cases,2 case and 25 558 cases,the incidence rates were 1 /1706,1 /172 381 and 7. 41%,CH and national incidence rate of1 /3009 was no significant difference( P < 0. 05),while the incidence of G6PD deficiency was significantly higher than 0. 69,PKU and national incidence rate of1 /11144 was no significant difference( P < 0. 05). Conclusion: It could prevent their intelligence and physical development of newborn damage through neonatal genetic metabolic disease screening. Strengthen the work of newborn genetic metabolic disease screening will control birth defects and improve the quality of births.更多还原