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目的分析深圳市新生儿疾病筛查结果,对筛查检出率等进行探讨。方法应用自动连续微量流动荧光分析技术、荧光酶免法、酶联免疫法、细菌抑制法等技术,检测出生3d新生儿足跟血干血片中苯丙氨酸、促甲状腺素、总半乳糖含量及葡萄糖6磷酸脱氢酶活性,进行苯丙酮尿症、甲状腺功能减低症、半乳糖血症、葡萄糖6磷酸脱氢酶缺乏症的筛查。结果1998至2008年筛查了深圳市782630名新生儿,检出持续性高苯丙氨酸血症27例(经典型苯丙酮尿症15例,高苯丙氨酸血症8例,四氢喋呤缺乏症4例),甲状腺功能减低症458例,2002年8月至2008年12月筛查新生儿631878名,检出高半乳糖血症12例,葡萄糖6磷酸脱氢酶缺乏症4937例。结论新生儿疾病筛查是避免先天性遗传代谢病所致智障残疾等发生的有效措施之一。
Objective To analyze the screening results of neonatal diseases in Shenzhen and explore the detection rate of screening. Methods Automated continuous flow cytometry, fluorescent enzyme immunoassay, enzyme-linked immunosorbent assay, bacterial inhibition and other techniques were used to detect phenylalanine, thyrotropin, total galactose Content and glucose 6 phosphate dehydrogenase activity, phenylketonuria, hypothyroidism, galactosemia, glucose 6 phosphate dehydrogenase deficiency screening. Results From 1998 to 2008, 782630 newborns in Shenzhen were screened and 27 cases of persistent hyperphenylalaninemia were detected (classic phenylazuria 15, hyperphenylalaninemia 8, 4 cases of neopterin deficiency), 458 cases of hypothyroidism, screening of 631878 newborns from August 2002 to December 2008, detected 12 cases of hypergalacturia, glucose 6 phosphate dehydrogenase deficiency 4937 example. Conclusion Neonatal disease screening is one of the effective measures to avoid the occurrence of mental disability caused by congenital genetic metabolic diseases.