摘要
目的通过对宁波市近四年新生儿先天性甲状腺功能低下(CH)和苯丙酮尿症(PKU)筛查结果的分析,了解宁波市新生儿疾病筛查工作现状,探索进一步促进新生儿筛查工作的管理方法。方法采用时间分辨荧光免疫分析法(DELFIA)检测新生儿干血片上促甲状腺素(TSH)浓度,并根据TSH结果对CH的发病率进行统计学分析。采用荧光法检测新生儿干血片上苯丙氨酸(Phe)浓度。结果共筛查330 568例新生儿,筛查率为98.08%,召回率为95.84%。CH的发病率为1/1740,PKU的发病率为1/33057。结论新生儿疾病筛查是CH、PKU早期诊断的有效方法,其顺利进行能有效地降低CH、PKU患儿残疾发生率,提高出生人口素质。
Objective： To investigate the state of Newborn Mass-screening Program by analyzing the prevalence of Neonatal Congenital Hypothyroidism（CH）and Phenylketonuria（PKU） in Ningbo City during the past four years and explore the new method for Newborn disease screening.Methods： Thyrotropin（TSH） and Phenylalanine（Phe） concentration in dried blood spotcollected on the filter paper were tested respectively by dissociation-enhanced lanthanide fluoroimmunoassay（DELFIA） and fluorescent assay,the prevalence of CH was statistically analyzed according to the concentration of TSH.Results： Total 330 568 neonates were examined,the screening rate and recall rate was 98.08% and 95.84%,CH and PKU morbidity rate was 1/1740 and 1/33057.Conclusion： Newborn screening provides an effective method for diagnosing of the CH and PKU and reducing the rate of the birth defect.
出处
《中国优生与遗传杂志》
2013年第5期111-112,110,共3页
Chinese Journal of Birth Health & Heredity
