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目的:回顾扬州市新生儿先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)6年来筛查情况,总结经验、查找不足,以促进新生儿疾病筛查工作。方法:新生儿出生后72 h采足跟末梢血制成滤纸干血片,用时间分辨免疫荧光分析法(DELFIA)检测血片中促甲状腺素(NTSH)和苯丙氨酸(Phe)含量,筛查切值NTSH≥9.0 mIU/L,Phe≥2.0 mg/dl,对初筛结果超过相应切值者,取原血片复检,复检仍阳性者,立即通知重新采血复测。结果:共筛查新生儿137 285例,确诊患儿CH43例,CH发病率为1∶3 193,男、女之比为1.08∶1,确诊PKU患儿14例,PKU发病率为1∶9 806,男、女之比1.33∶1。结论:扬州市CH和PKU发病率处于全国平均水平,各级政府部门和妇幼保健机构应加强新生儿疾病筛查网络建设、管理,进一步提高筛查覆盖率。
OBJECTIVE: To review the screening status of congenital hypothyroidism (CH) and phenylketonuria (PKU) in neonates in Yangzhou City in the past six years, summarize the experience and find out enough to promote the screening of neonatal diseases. Methods: Newborn blood samples were collected at 72 h after birth to make dry pieces of filter paper, and the levels of thyroid-stimulating hormone (NTSH) and phenylalanine (Phe) in blood films were detected by time-resolved immunofluorescence assay (DELFIA) Screening cut value NTSH ≥ 9.0 mIU / L, Phe ≥ 2.0 mg / dl, the screening results exceed the corresponding cut-off value, take the original blood film re-examination, retest is still positive, immediately informed re-blood retest. Results: A total of 137 285 newborns were screened. Among them, 43 cases were diagnosed as CH, the incidence of CH was 1: 193, the ratio of male to female was 1.08: 1, and 14 cases were diagnosed with PKU. The incidence of PKU was 1: 9 806, male and female ratio 1.33: 1. Conclusion: The prevalence of CH and PKU in Yangzhou is at the national average. Government departments at all levels and MCH institutions should strengthen the construction and management of neonatal screening network and further increase the screening coverage.