Kaplan M, Hammerman C, Bhutani V K
Faculty of Medicine (Pediatrics), Hebrew University, Jerusalem, Israel.
Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel.
J Perinatol. 2015 Oct;35(10):779-84. doi: 10.1038/jp.2015.77. Epub 2015 Jul 16.
Neonatal screening for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in any population with a male frequency >3-5%, combined with parental education regarding the dietary, environmental and sepsis-related triggers for hemolysis was recommended by the WHO (World Health Organization) Working Group in 1989. As the aim of identifying G-6-PD deficiency in the newborn period is to avert or detect extreme hyperbilirubinemia developing at home, before the development of kernicterus, the parental role in identifying evolving icterus was considered integral to any screening program. Now, a quarter century after publication of this report, severe bilirubin neurotoxicity associated with G-6-PD deficiency continues to be encountered worldwide. Screening programs have not been universally introduced but several national or regional maternal child health programs have implemented neonatal G-6-PD screening. Some reports detail the role of parental education, based on the above mentioned principles, through a variety of audio-visual materials. The paucity of randomized controlled trials or validated evidence to demonstrate the effectiveness of the contribution of parental education fails to meet the ideal testable evidence-based approach. However, our review of the cumulative experience and evidence currently available does supply certain information reflecting a positive impact of screening programs combined with parental input. We propose that the current information is sufficient to continue to support and apply the Working Group's recommendations. In order not to waste unnecessary time available, data may be used in lieu of randomized trials to continue to recommend screening programs, as suggested, in high-risk regions. If the incidence of kernicterus associated with G-6-PD deficiency is to be diminished, G-6-PD screening in combination with parental explanation may be one instance in which the consensus approach suggested by the WHO Working Group, rather than reliance on (nonexistent) evidence-based studies, should continue to be practiced.
1989年,世界卫生组织(WHO)工作组建议,在任何男性发病率>3-5%的人群中进行葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症的新生儿筛查,并对家长进行有关饮食、环境和败血症相关溶血诱因的教育。由于在新生儿期识别G-6-PD缺乏症的目的是在发生核黄疸之前在家中预防或检测出极端高胆红素血症,因此家长在识别黄疸进展中的作用被认为是任何筛查计划不可或缺的一部分。现在,这份报告发表四分之一个世纪后,与G-6-PD缺乏症相关的严重胆红素神经毒性在全球范围内仍时有发生。筛查计划尚未普遍推行,但一些国家或地区的母婴健康计划已实施新生儿G-6-PD筛查。一些报告详细介绍了基于上述原则,通过各种视听材料进行家长教育的作用。缺乏随机对照试验或有效证据来证明家长教育的贡献效果,未能达到理想的可测试的循证方法。然而,我们对目前现有累积经验和证据的回顾确实提供了某些信息,反映了筛查计划与家长参与相结合的积极影响。我们建议,目前的信息足以继续支持和应用工作组的建议。为了不浪费不必要的可用时间,可以使用数据代替随机试验,继续在高风险地区按建议推荐筛查计划。如果要降低与G-6-PD缺乏症相关的核黄疸发病率,G-6-PD筛查与向家长解释相结合可能是一个实例,其中世卫组织工作组建议的共识方法,而非依赖(不存在的)循证研究,应继续实行。