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目的分析2007—2014年宜宾市翠屏区新生儿疾病筛查结果。方法选取2007—2014年在宜宾市翠屏区设置产科的医疗机构分娩的新生儿77 698例,新生儿出生72 h~7 d,经充分哺乳后采集其足跟血制成合格的滤纸干血片,检测血清苯丙氨酸(Phe)和促甲状腺素(TSH)水平,筛查苯丙酮尿症(PKU)和先天性甲状腺功能减退症(CH)。结果 2007—2014年宜宾市翠屏区新生儿筛查率为85.01%,PKU筛查可疑阳性召回率为89.84%,CH筛查可疑阳性召回率为91.86%。确诊PKU患儿1例,发病率为1∶77 698;确诊CH患儿53例,发病率为1∶1 466。经筛查确诊的54例患儿中,50例在宜宾市新生儿筛查治疗中心得到正规治疗,治疗率为92.59%。结论翠屏区应加大新生儿疾病筛查工作开展力度,提高新生儿筛查率、可疑阳性召回率及治疗率。
Objective To analyze the screening results of neonatal diseases in Cuiping District, Yibin City, 2007-2014. Methods A total of 77 698 newborns were delivered during 2007-2014 in the obstetrics and gynecology medical institutions in Cuiping District, Yibin City. The newborns were born between 72 and 7 days after their lactation. The levels of Phe and TSH in serum were detected to detect PKU and CH. Results From 2007 to 2014, the screening rate of newborn in Cuiping District of Yibin City was 85.01%. The suspicious positive recall rate of PKU screening was 89.84%. The suspicious positive recall rate of CH screening was 91.86%. One patient diagnosed with PKU had a prevalence of 1:77 698; 53 confirmed CH children had a prevalence of 1: 466. Of the 54 cases diagnosed by screening, 50 cases were treated formally in the Newborn Screening Treatment Center of Yibin, with a treatment rate of 92.59%. Conclusion Cuiping area should increase neonatal screening work carried out to improve neonatal screening rate, suspicious positive recall rate and treatment rate.