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目的通过对怀化市2011—2016年新生儿先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)筛查结果的分析,了解怀化市新生儿疾病筛查的情况,为进一步提高新生儿疾病的筛查质量及干预措施提供依据。方法选取2011—2016年怀化市285 306例接受先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)筛查的新生儿,于出生后72h后采足跟血制成滤纸干血片,应用时间分辨免疫荧光法检测血片中促甲状腺激素(TSH)浓度,应用茚三酮荧光测定法测定血苯丙氨酸(Phe)浓度,TSH值≥9 m IU/L或Phe值≥2.0mg/dl的新生儿视为可疑阳性,召回复查并进一步确诊。结果所选新生儿中共确诊CH患儿114例,发病率为1/2503,PKU患儿7例,发病率为1/40758,怀化市CH、PKU发病率低于发达城市的平均水平。结论新生儿疾病筛查是CH、PKU早期诊断的有效方法。加大宣传力度、提高血片质量、提高筛查率,是保证新生儿疾病筛查成功的关键。
Objective To analyze the screening results of neonatal congenital hypothyroidism (CH) and phenylketonuria (PKU) in 2011-2016 in Huaihua City, so as to understand the screening of neonatal diseases in Huaihua City, in order to further improve the neonatal The quality of disease screening and interventions provide the basis. Methods A total of 285 306 newborn infants with congenital hypothyroidism (CH) and phenylketonuria (PKU) screening from 2011 to 2016 in Huaihua City were selected. After 72 hours of birth, blood samples were taken from filter paper dried blood tablets (TSH) was determined by time-resolved immunofluorescence. Blood Phe concentration was determined by ninhydrin fluorescence assay. TSH value ≥ 9 m IU / L or Phe value ≥ 2.0 Newborns with mg / dl were considered suspicious and were recalled and further diagnosed. Results In the selected infants, there were 114 confirmed cases of CH in children with a prevalence of 1/2503 and 7 cases of PKU with a prevalence of 1/40758. The prevalence of CH and PKU in Huaihua was lower than the average level in developed cities. Conclusion Neonatal disease screening is an effective method for the early diagnosis of CH and PKU. To increase publicity, improve the quality of blood films, improve the screening rate is to ensure the success of newborn screening disease key.