上海交通大学学报（医学版）

上海交通大学学报（医学版）

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上海市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查及临界值确立

郭静，许洪平，姚静，田国力   

  1. 上海市儿童医院 上海交通大学附属儿童医院新生儿筛查中心， 上海 200040
  • 出版日期:2015-04-28 发布日期:2015-04-29
  • 通讯作者: 田国力, 电子信箱: shscreening@126.com。
  • 作者简介:郭静（1989—）， 女， 检验技师; 电子信箱: guo_jing626@sina.com。

Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Shanghai and determination of cut off value

GUO Jing, XU Hong-ping, YAO Jing, TIAN Guo-li   

  1. Neonatal Screening Center, Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China
  • Online:2015-04-28 Published:2015-04-29

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摘要：

目的 开展上海地区新生儿葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的筛查，确立筛查实验室的临界值，降低假阳性率，提高出生人口素质。方法 采用定量荧光法测定新生儿滤纸干血片上的G6PD浓度值；以G6PD/6PGD定量比值法对筛查阳性患儿进行确诊。结果 筛查新生儿217 447名（男婴116 549名，女婴100 898名），确诊患儿270例（男婴250例，女婴20例），新生儿G6PD缺乏症的发生率为0.18%，男婴发生率为0.31%，女婴发生率0.03%；新生儿、男婴和女婴G6PD浓度的临界值分别为2.165 U/g、1.97 U/g和2.165 U/g。结论 开展新生儿疾病筛查可早期诊断和预防G6PD，值得在上海地区推广；筛查实验室建立新生儿、男婴、女婴各自的临界值，可降低G6PD缺乏症筛查的假阳性，提高筛查效率。

关键词: 新生儿疾病筛查, 葡萄糖-6-磷酸脱氢酶缺乏症, 发生率, 临界值

Abstract:

Objective To screen the newborns with glucose-6-phosphate dehydrogenase (G6PD) deficiency in Shanghai, determine the cut off value for the screening laboratory, reduce the false positive rate, and improve the quality of population. Methods G6PD levels of filter paper blood samples were detected by the quantitative fluorometric method. Definite diagnoses were made for suspected cases by the G6PD/6PGD quantitative ratio method. Results A total of 217 447 newborns (116
549 boys and 100 898 girls) were screened and 270 of them were definitely diagnosed with G6PD deficiency (250 boys and 20 girls). The incidences of G6PD deficiency of all newborns, boys, and girls were 0.18%, 0.31%, and 0.03%, respectively. The cut off values of G6PD of all newborns, boys, and girls were 2.165 U/g, 1.97 U/g, and 2.165 U/g, respectively. Conclusion Early diagnosis and prevention of G6PD deficiency can be achieved by the neonatal screening, which should be popularized in Shanghai. Screening laboratories should determine the cut off values for newborns, boys, and girls that can reduce the false positive rate for screening G6PD deficiency and improve the screening efficiency.

Key words: neonatal screening, glucose-6-phosphate dehydrogenase deficiency, incident, cut off value