摘要
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 analyse the neonatal screening results of newborns in our hospital in order to avoid the occurrence of irreversible mental damages to newborns.Methods：Neonatal screening with heel blood samples was applied on 2287 newborns in our hospital,then we use SQLims PRO 2.0 software to analyse the results of neonatal screening.Results：In 2287 newborns,2 cases were found with suspected PKU,one of which was confirmed positive.Another 4 cases were found with suspected CH.However,all four CH suspected cases were confirmed negative.Conclusion：Neonatal screening can be used to diagnose PKU and CH in an early period of infancy.Early treatment after neonatal screening can prevent the occcurence of irreversible defects to the body.Therefore,the neonatal screening method is of incalculable economic and social value.
出处
《中国优生与遗传杂志》
2011年第4期74-75,共2页
Chinese Journal of Birth Health & Heredity
