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目的:了解茂名地区新生儿疾病筛查和发病情况,统筹茂名地区新生儿G6PD缺乏症、PKU及CH患儿的追踪、预防和治疗工作,探讨茂名地区实施新生儿遗传代谢缺陷病的控制作用。方法:收集茂名地区出生满72h并喂足8次奶后的新生儿采集的滤纸干血斑标本,采用荧光斑点法检测G6PD活性筛查G6PD缺乏症,荧光酶联免疫法检测促甲状腺激素(TSH)筛查CH,荧光分析法检测苯丙氨酸(Phe)筛查PKU。结果:采血筛查新生儿120 773例,确诊CH患儿91例,G6PD缺乏症8 741例,苯丙酮尿症(PKU)1例。医院覆盖率71.53%以上,筛查率42.66%以上。结论:新生儿疾病筛查使缺陷儿智能发育和体格发育基本正常,实现了控制遗传代谢缺陷病的三级预防目标。加强新生儿疾病筛查工作是减少出生缺陷、提高出生人口素质的重要措施,为提高我国人口素质具有重要的意义。
OBJECTIVE: To understand the screening and incidence of neonatal diseases in Maoming, to coordinate the follow-up, prevention and treatment of neonatal G6PD deficiency, PKU and CH in Maoming and to explore the control effect of neonatal genetic metabolic deficiency disease in Maoming. Methods: Blood samples of filter paper collected from neonates collected at least 72h after birth in Maoming area were collected. The G6PD activity was detected by fluorescent speckle assay for G6PD deficiency. Thyroid stimulating hormone (TSH ) Screening CH, fluorescence analysis of phenylalanine (Phe) screening PKU. Results: A total of 120 773 newborns were screened by blood sampling, including 91 diagnosed CH children, 8 741 cases of G6PD deficiency and 1 case of phenylketonuria (PKU). Hospital coverage of 71.53% or more, the screening rate of 42.66% or more. Conclusion: Neonatal disease screening makes the normal development of defective children’s physical development and physical development, and achieves the tertiary prevention goal of controlling genetic metabolic deficiency disease. Strengthening screening of neonatal diseases is an important measure to reduce birth defects and improve the quality of the population born, which is of great significance for improving the quality of our population.