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目的总结2010-2013年新疆南部五地州新生儿疾病筛查及患儿随访情况,为今后实施一级预防提供依据。方法应用时间分辨荧光免疫方法检测干血片的促甲状腺激素(TSH)的水平,采用荧光法检测苯丙氨酸(PHE)含量,对确诊患儿进行治疗和随访。结果 2010-2013年新疆维吾尔自治区人民医院新生儿疾病筛查中心共筛查新生儿196 918名。确诊CH患儿22例,4年平均检出率1:7877.其中接受治疗19例患儿,放弃治疗3例,接受治疗率为86.36%,这些患儿中84.21%经过持续治疗后,其智能和体格发育均达到健康同龄儿水平。确诊PKU患儿49例,4年平均检出率为1:4019,其中接受治疗25例患儿,放弃治疗7例,接受治疗率为85.71%,这些患儿中83.33%经过持续治疗后,其智能和体格发育大部分可达到健康同龄儿水平。结论新生儿疾病筛查是减少出生缺陷的重要手段,通过筛查和早期治疗,可使患儿智力达到正常水平,减少弱智儿童的发病率;有效开展新生儿疾病筛查,对提高人口素质起着积极的推动作用.
Objective To summarize the screening of neonatal diseases and the follow-up of children in five states of southern Xinjiang from 2010 to 2013, and provide evidence for the implementation of primary prevention in the future. Methods Thyroid stimulating hormone (TSH) levels in dried blood tablets were detected by time-resolved fluorescent immunosorbent assay. Phenylalanine (PHE) content was detected by fluorescence spectrometry, and the patients were treated and followed up. Results Between 2010 and 2013, a total of 196,918 newborns were screened at the Neonatal Screening Center of People’s Hospital of Xinjiang Uygur Autonomous Region. Twenty-two children were diagnosed with CH, the average detection rate in 4 years was 1: 7877. Among them, 19 cases were treated and 3 cases were given up for treatment. The treatment rate was 86.36%. After continuous treatment, 84.21% And physical development have reached the same level of healthy children. Forty patients diagnosed with PKU had a 4-year average detection rate of 1: 4019, of which 25 received treatment, 7 gave up treatment and received 85.71% of the treatment, and 83.33% of these children were treated continuously Most of the smart and physical development can reach the level of healthy peers. Conclusion Neonatal disease screening is an important means to reduce birth defects. Through screening and early treatment, children’s intelligence can reach the normal level and reduce the incidence of mentally handicapped children. Effective screening of neonatal diseases, to improve the quality of the population A positive role in promoting.