Numerous US states have implemented newborn screening for Krabbe disease (Krabbe NBS) as a result of legislative state mandates. While healthcare provider opinions toward Krabbe NBS have been documented, few studies have explored parental experiences and opinions regarding Krabbe NBS. Eleven families, who received a false-positive Krabbe NBS result and received genetic counseling at an institution in central Ohio, were consented to participate in semistructured interviews. Interviews explored parents’ experiences throughout the NBS process and ascertained their opinions regarding Krabbe NBS. Three major themes emerged from thematic analysis: (1) improved understanding of the NBS process from a parent perspective, (2) the role of healthcare provider communication, and (3) the value of Krabbe NBS. Parents saw value in Krabbe NBS, despite many disclosing emotional distress and uncertainty throughout the NBS process. Parent experiences throughout the NBS process varied widely. Due to the expressed emotional distress, further research assessing effective communication during the NBS process is warranted. The researchers suggest additional NBS education for non-genetics healthcare providers (i.e., nurses or primary care physicians) and further participation of genetic counselors in the NBS process may benefit families with a positive Krabbe NBS result.

中文翻译：

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对新生儿克拉伯病假阳性筛查父母经验的定性评估

由于州立法授权，美国许多州已经实施了新生儿克拉伯病筛查 (Krabbe NBS)。虽然已经记录了医疗保健提供者对 Krabbe NBS 的意见，但很少有研究探讨父母对 Krabbe NBS 的经验和意见。在俄亥俄州中部的一家机构接受了假阳性 Krabbe NBS 结果并接受遗传咨询的 11 个家庭被同意参加半结构化访谈。访谈探讨了父母在整个 NBS 过程中的经历，并确定了他们对 Krabbe NBS 的看法。主题分析中出现了三个主要主题：(1) 从家长的角度提高了对 NBS 流程的理解，(2) 医疗保健提供者沟通的作用，以及 (3) Krabbe NBS 的价值。父母看到了 Krabbe NBS 的价值，尽管许多人在整个 NBS 过程中都披露了情绪困扰和不确定性。在整个 NBS 过程中，家长的经历差异很大。由于表达的情绪困扰，有必要进一步研究评估 NBS 过程中的有效沟通。研究人员建议对非遗传医疗保健提供者（即护士或初级保健医生）进行额外的 NBS 教育，并且遗传咨询师进一步参与 NBS 过程可能会使 Krabbe NBS 结果呈阳性的家庭受益。