标题：实施海南省新生儿苯丙酮尿症筛查的建议

      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 2    (1.南华大学，湖南 衡阳 421001；2.海南省妇幼保健院，海南 海口 570206)

      卷次： 2017年28卷12期

      【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。
      【关键词】 新生儿疾病；筛查；苯丙酮尿症；海南
      【中图分类号】 R729 【文献标识码】 B 【文章编号】 1003—6350（2017）12—2039—02

Suggestions for neonatal screening of phenylketonuria in Hainan province.
ZHAO Zhen-dong 1,2, WANG Jie 2, WANGShao-sheng 2, LIU Xiu-lian 2, ZHU Xiao-mei 2, XU Hai-zhu 2, YANG Chun 2, HUANG Ci-dan 2. 1. South China University,Hengyang 421001, Hunan, CHINA; 2. the Maternal and Child Health Hospital of Hainan Province, Haikou 570206,Hainan, CHINA【Abstract】 Since the implementation of“Management of Screening for Neonatal Diseases”after June 1, 2009 inChina, phenylketonuria has become one of the neonatal diseases that should be screened. This autosomal recessive diseasecan cause irreversible damage to the intelligence of the newborns, and thus poses a threat to population quality of birth. Asthe 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 multiplelinks and a large amount of screening work, and measures should be taken to ensure the quality of screening.
      【Key words】 Neonatal disease; Screening; Phenylketonuria; Hainan·经验交流·doi:10.3969/j.issn.1003-6350.2017.12.050