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目的:总结和分析珠海市2001～2006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,探讨该市新生儿疾病筛查中存在的问题并提出相应的对策。方法:采用干滤纸片法测定全血中的促甲状腺素、苯丙氨酸和G6PD活性。结果:在这近6年中,共筛查43 097份新生儿血样本,平均筛查覆盖率为52.04%,检出CH和G-6PD缺乏症患儿各17例和1 336例,发病率分别为0.4‰和3.25%,CH与全国0.3‰的发病率比无显著性的差异(χ2=0.50,P>0.05),而G6PD缺乏症的发生率则明显高于深圳市0.69%的发生率(χ2=3 445.16,P<0.005)。期间未筛出PKU患儿。结论:通过新生儿疾病筛查可有效地对CH和G-6PD缺乏症进行早期诊断和早期防治,从而可避免其对新生儿智能和体格发育的损害。该市与经济发展不相称的新生儿疾病筛查覆盖率值得当地卫生行政部门的高度重视,建议加强宣传和监管力度以减少残疾儿的发生。
Objective: To summarize and analyze three neonates with congenital hypothyroidism (CH), phenylketonuria (PKU) and glucose-6-phosphate dehydrogenase (G-6PD) deficiency in Zhuhai from 2001 to 2006 Congenital diseases and genetic disease screening results to explore the city’s neonatal disease screening problems and propose appropriate countermeasures. Methods: Thyrotropin, phenylalanine and G6PD activities in whole blood were determined by dry filter paper method. Results: A total of 43 097 neonatal blood samples were screened over the past 6 years with an average screening coverage of 52.04%. There were 17 and 1136 children with CH and G-6PD deficiency, respectively. The incidence rate Respectively, 0.4% o and 3.25% respectively. There was no significant difference between CH and 0.3% o in the whole country (χ2 = 0.50, P> 0.05), but the incidence of G6PD deficiency was significantly higher than that of Shenzhen 0.69% (χ2 = 3 445.16, P <0.005). Period did not screen out PKU children. CONCLUSIONS: Early detection and early prevention of CH and G-6PD deficiency can effectively be prevented through neonatal screening, thus avoiding their damage to the intelligence and physical development of the newborn. The city’s disproportionate coverage of newborn diseases screening for economic development deserves the attention of the local health administrative departments. It is proposed to step up publicity and supervision so as to reduce the incidence of disabled children.