广东粤北地区新生儿疾病筛查及防治对策研究

Analysis on Neonatal Screening and Prevention and Treatment Countermeasure between 2009—2012 in North Area of Guangdong

目的分析2009—2012年广东省粤北地区新生儿疾病筛查现状和先天性甲状腺功能减低症(CH)、葡萄糖-6-磷酸脱氢酶缺乏症(G-6-PD)和苯丙酮尿症(PKU)的发病率情况。方法对粤北地区2009—2012年新生儿疾病筛查资料进行回顾性分析。结果粤北地区2009—2012年的新生儿疾病平均筛查率为88.84%,并且逐年升高。CH发病率为0.56‰(1∶1789),高于广东其他城市;G-6-PD 7 759例,检出率为4.93%(1∶20);PKU 2例,检出率为0.013‰(1∶78 707)。结论总结分析粤北地区新生儿疾病筛查现状,为今后筛查工作的进展提供科学依据,对提高粤北地区出生人口素质,减少出生缺陷率,保障婴幼儿健康发展起着关键作用。

OBJECTIVE To investigate and study incidence of neonatal screening and the incidence of congenital hypothyroidism（CH）, glucose-6-phosphate dehydrogenases activity（G-6-PD） and phenylketonuria（PKU）. METHODS To analyze the neonatal screening from 2009 to 2012 in north Guangdong area. RESULT Incidence CH was 0.56%o（1：1789）, higher than other cities in Guangdong; G-6- PD was 4.93%（1：20）; PKU was 0.013%o（1：78 707）, and the average of neonatal screening rate was 88.84%, then the rate was increased by years. CONCLUSION Summarizes and analyzes incidence of newborn CH, G-6-PD, PKU and detailed information of intervention in north area of Guangdong. On the basis of this work, neonatal diseases screening work would be favorable, which important to reduce the rate of the birth defect and protect the health of infants.