Mucopolysaccharidosis type I (MPS I)/Hurler syndrome newborn screening was added to the recommended uniform screening panel (RUSP) in 2016. As states have added screening for MPS I, programs have reported increased rates of false positives. Reasons for false positive screens include carrier status, true false positive, late‐onset/attenuated forms, and in about half of cases, pseudodeficiency alleles. These alleles have DNA variants that can cause falsely decreased enzyme activity on biochemical enzyme studies and have increased frequency in individuals of African American and African descent. We describe the District of Columbia (DC) experience with MPS I screening from December 2017 to February 2019. In the context of a review of the literature on newborn screening and family experiences and this DC‐based experience, we offer potential solutions to address preliminary concerns regarding this screening. The impact of overrepresentation of screen positives in a minority group and unintentional creation of health disparities and community wariness regarding medical genetics evaluations must be considered to improve the newborn screen programs nationally and internationally.

中文翻译：

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I型粘多糖贮积症新生儿筛查：第二级检测对族裔不同人群的重要性

I型粘多糖贮积症/ Hurler综合征新生儿筛查已于2016年添加到推荐的统一筛查小组（RUSP）中。由于各州都增加了对MPS I的筛查，因此计划报告的假阳性率有所增加。假阳性筛查的原因包括携带者状态，真假阳性，迟发/减毒形式，在大约一半的情况下，假缺陷等位基因。这些等位基因具有DNA变体，可导致生化酶研究中的酶活性错误降低，并且在非裔和非裔个体中的频率增加。我们描述了哥伦比亚特区（DC）在2017年12月至2019年2月进行MPS I筛查的经验。在回顾有关新生儿筛查和家庭经验的文献以及基于DC的经验的背景下，我们提供潜在的解决方案，以解决有关此筛选的初步问题。必须考虑在少数族裔群体中过度筛查阳性的影响以及在医学遗传学评估方面无意造成的健康差异和社区警惕，以改善国内和国际上的新生儿筛查计划。