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目的通过对2009年-2014年六年来衡阳市新生儿疾病筛查结果的分析,了解我市新生儿先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)和高TSH血症的发病情况,以探索积极有效的预防及治疗措施。方法新生儿出生72h后,采3滴足跟血至专用血片,自然晾干后,4-80C冰箱保存,5天内送至筛查中心进行检测,通过时间分辨荧光免疫分析法(DELFIA)测定血片中促甲状腺素含量,化学荧光法测定苯丙氨酸(Phe)含量。对结果进行统计及分析。结果 5年共筛查新生儿383484人,筛查率为77.12%,确诊苯丙酮尿症患儿14例,发病率1/27391,先天性甲状腺功能减低症127例,发病率1/3019,高TSH血症54例,发病率1/7101。结论通过新生儿疾病筛查,对患儿早诊断、早治疗,避免疾病导致不可逆损伤的发生,从而提高本地区人口素质。
Objective To understand the neonatal congenital hypothyroidism (CH), phenylketonuria (PKU) and hyperuricemia in our city by analyzing the screening results of neonatal diseases in Hengyang City from 2009 to 2014. Situation to explore active and effective prevention and treatment measures. Methods After the newborn was born 72h, three drops of heel blood were taken to the special blood film. After being naturally dried, the baby was preserved in 4-80C refrigerator and sent to the screening center within 5 days for detection. The time-resolved fluorescence immunoassay (DELFIA) Thyroid hormone content in blood film, and the content of phenylalanine (Phe) by chemiluminescence method. The results of the statistics and analysis. Results A total of 383484 newborns were screened during the 5 years. The screening rate was 77.12%. Fourteen children with phenylketonuria were diagnosed with a morbidity of 1/27391 and 127 cases with congenital hypothyroidism, the incidence was 1/3019. 54 cases of TSH hyperlipidemia, the incidence of 1/7101. Conclusion Through the neonatal screening, early diagnosis and early treatment of children, to avoid the disease lead to irreversible damage, thereby improving the quality of population in the region.