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目的探讨广州市实施新生儿疾病筛查19年对遗传代谢缺陷病的控制作用。方法收集广州市出生新生儿3d时采集的足跟血滤纸干血斑标本,用实验方法检测促甲状腺素(TSH)筛查先天性甲状腺功能减低症(CH);检测苯丙氨酸(Phe)筛查持续性高苯丙氨酸血症(PHPA);检测红细胞葡萄糖-6-磷酸脱氢酶(G6PD)活性筛查G6PD缺乏症。凡筛查阳性者按疾病诊疗常规进行确诊和治疗,以检出的CH和苯丙酮尿症(PKU)为筛查组。以未实施新生儿筛查,经临床诊断的CH和PKU为对照组。结果共筛查新生儿1013288名,检出CH366例,PHPA30例,G6PD缺乏42558例。CH和PKU共396例。平均开始治疗日龄20d,IQ或DQ智力测定正常者358例(90.5%),低于平常者37例(10.2%),筛查干预有效率近100%。DQ<701例。与对照组比较差异有显著性(P<0.01)。结论新生儿疾病筛查使90%的CH,PKU缺陷儿智能发育达完全正常,另外近10%亦达基本正常,实现了控制遗传代谢缺陷病的三级预防目标。强调依法提供筛查服务,做好宣传告知,使全社会各相关行政部门、医疗保健机构、社团组织和家长群众都认识到新生儿疾病筛查的有效性和必要性,共同使新生儿疾病筛查服务这一所有新生儿的保健权、健康权、发展权实现好、维护好、发展好。必须规范技术服务流程、严格质量管理,保证筛查安全,使其广泛普及和持续发展,为提高我国人口素质起到越来越重要的作用。
Objective To investigate the control effect of genetic screening for neonatal diseases screening in Guangzhou for 19 years. Methods Hemispheric blood-plasma samples of heel hematofilter collected from neonatal 3-day-old in Guangzhou were collected for the detection of thyroid-stimulating hormone (TSH) in congenital hypothyroidism (CH) by experimental methods. The levels of phenylalanine (Phe) Screening for persistent hyperphenylalaninemia (PHPA); detecting G6PD deficiency by detecting erythrocyte glucose-6-phosphate dehydrogenase (G6PD) activity. All screening positive diagnosis and treatment by disease diagnosis and treatment to detect CH and phenylketonuria (PKU) as a screening group. To not carry out neonatal screening, clinically diagnosed CH and PKU as a control group. Results A total of 1013288 newborns were screened, 366 CH36 cases were detected, 30 cases were PHPA, and 42 558 cases were lack of G6PD. A total of 396 cases of CH and PKU. On average, 208 days of treatment started, 358 cases (90.5%) had normal IQ or DQ IQ, 37 cases (10.2%) were lower than normal, and the effective rate of screening intervention was nearly 100%. DQ <701 cases. Compared with the control group, the difference was significant (P <0.01). Conclusion Neonatal disease screening makes 90% of CH and PKU deficient children develop completely and the other nearly 10% of them are almost normal, which achieves the goal of tertiary prevention of genetic metabolic deficiency. Emphasize that screening services should be provided in accordance with the law and publicity should be made so that all relevant administrative departments, health care institutions, mass organizations and parents of the whole society recognize the effectiveness and necessity of screening neonatal diseases and jointly screen newborn diseases The health care right, the right to health, the right to development, the maintenance of all newborns, the maintenance of good rights and the good development of all those newborn children are being investigated. It is imperative to standardize the technical service processes, ensure strict quality control, ensure the safety of screening, make it widely popularized and sustainable development, and play an increasingly important role in raising the quality of our population.