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目的通过对我院新生儿进行先天性甲状腺功能低下(cH)和苯丙酮尿症(PKU)的筛查,降低缺陷儿发生。方法检测促甲状腺刺激激素(TSH)筛查CH;检测苯丙氨酸(phe)筛查PKU。结果在2287名新生儿中,发现有2例PKU可疑患儿,经复查确诊其中1例为PKU阳性患儿。发现4例CH可疑患儿,复查确诊为0例。结论新生儿疾病筛是早期发现CH、PKU缺陷患儿,使其得到诊治,避免发生身体和智力不可逆的损害的有效方法。在优生优育领域具有不可估量的经济与社会价值。
Objective To reduce the incidence of defects by screening congenital hypothyroidism (cH) and phenylketonuria (PKU) in our hospital. Methods Thyroid stimulating hormone (TSH) was used to screen for CH; phenylalanine (phe) was used to screen PKU. Results Among 2287 newborns, 2 cases of suspected PKU were found, of which 1 was PKU-positive in our hospital. Found 4 cases of CH suspicious children, diagnosed as 0 cases. Conclusion Neonatal disease screening is an effective method to detect children with CH and PKU defects in the early stage and make them diagnosed and treated to avoid irreversible damage to the body and intelligence. In the field of prenatal and postnatal care with incalculable economic and social value.