实施海南省新生儿苯丙酮尿症筛查的建议  

Suggestions for neonatal screening of phenylketonuria in Hainan province

作　　者：赵振东[1,2] 王洁[2] 王绍胜[2] 刘秀莲[2] 朱晓妹[2] 许海珠[2] 杨春[2] 黄慈丹 

机构地区：[1]南华大学,湖南衡阳421001 [2]海南省妇幼保健院,海南海口570206

出　　处：《海南医学》2017年第12期2039-2040,共2页Hainan Medical Journal

摘　　要：我国《新生儿疾病筛查管理办法》在2009年6月1日实施后,苯丙酮尿症已是新生儿疾病筛查的必筛病种之一,此种常染色体隐形遗传性疾病会对新生儿造成不可逆的智力损害,严重威胁出生人口素质。海南省新生儿疾病筛查中心作为海南省内唯一筛查机构,涉及到全省300余家卫生助产单位,苯丙酮尿症筛查必然是一个多环节,大批量筛查性实验,如何保证筛查质量是应该解决的问题。Since the implementation of ＂Management of Screening for Neonatal Diseases＇ after June 1, 2009 in China, phenylketonuria has become one of the neonatal diseases that should be screened. This autosomal recessive disease can cause irreversible damage to the intelligence of the newborns, and thus poses a threat to population quality of birth. As the only institution for neonatal disease screening in Hainan province, Neonatal Disease Screening Center of Hainan Prov- ince provides services to more than 300 midwifery units in Hainan province. Phenylketonuria screening involves multiple links and a large amount of screening work, and measures should be taken to ensure the quality of screening.

关 键 词：新生儿疾病 筛查 苯丙酮尿症 海南 

分 类 号：R729[医药卫生—儿科]