论文部分内容阅读
目的:分析泰安市新生儿疾病筛查情况,探讨存在的不足。方法:1999年6月～2011年3月在泰安市辖区内出生的673 770例新生儿中进行先天性甲状腺功能低下症(CH)和高苯丙氨酸血症(HPA)筛查。2010年8月～2011年3月对41 766例新生儿进行先天性肾上腺皮质增生症(CAH)和葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)筛查。对筛查出的患儿部分给予免费6年治疗。结果:1999年～2011年平均筛查率99.48%,覆盖率100%。检出CH患儿185例,发病率为1∶3 687;HPA患儿103例,发病率1∶6 541。41 766例新生儿中检出G6PD患儿10例,发病率1∶4 177;检出CAH患儿3例,发病率1:13923。在部分免费治疗期间,患儿治疗率100%,治疗有效率100%,持续治疗率96.5%。经规范治疗的患儿体格、智力与正常儿童无明显差异。大于6岁的两病患儿(不再免费治疗)中,70例永久性CH患儿能坚持规范治疗;47例HPA患儿中定期购买无苯丙氨酸营养品的11例,其中达到规范饮食治疗的6例。结论:降低出生缺陷、提高人口素质不仅要提高新生儿疾病筛查率和覆盖率;还要提高筛查患儿的持续治疗率、拓展筛查病种。
Objective: To analyze the screening of neonatal diseases in Tai’an and to explore the existing problems. Methods: Congenital hypothyroidism (CH) and hyperphenylalaninemia (HPA) screening were performed among 673 770 newborns born in the district of Tai’an from June 1999 to March 2011. From August 2010 to March 2011, 41 766 newborns were screened for congenital adrenal hyperplasia (CAH) and glucose-6-phosphate dehydrogenase deficiency (G6PD). Part of the screening of children given free 6-year treatment. Results: The average screening rate from 1999 to 2011 was 99.48%, covering 100%. The detection of 185 children with CH, the incidence rate of 1: 6887; 103 cases of HPA children, the incidence of 1: 6 541.41 766 cases of neonatal G6PD detected in 10 children, the incidence of 1: 417; 3 cases were detected in children with CAH, the incidence of 1: 13923. During the part of free treatment, the treatment rate of children was 100%, the treatment efficiency was 100% and the continuous treatment rate was 96.5%. The standardized treatment of children with physical, mental and normal children no significant difference. 70 cases of permanent CH children can adhere to standard treatment in children with disease of more than 6 years old (no longer free treatment); 47 cases of HPA children regularly purchase 11 cases of non-phenylalanine nutrition, which reached the standard Diet treatment in 6 cases. Conclusion: Decreasing birth defects and improving population quality not only need to improve screening rate and coverage of neonatal diseases, but also increase the continuous treatment rate of screening children and expand the screening of disease types.