Expanded carrier screening identifies individuals who are at risk of having a child with an autosomal recessive condition. The most accurate risk assessment requires that both mother and father undergo carrier screening to determine whether they are carriers of the same autosomal recessive condition. A couple identified as carriers of the same condition has a 25% chance of having a child with that condition. However, the father does not always opt for carrier screening following a positive result in the mother. This study aimed to identify barriers that prevent the father from carrier screening after a positive finding in the mother. A total of 58 women participated in this study. All participants had undergone expanded carrier screening prior to the study and had met with a genetic counselor for a pre‐test, informed consent session. Of the 58 women, 34 had partners who did not undergo screening and 24 had partners who did. Participants completed a survey to determine the barriers that prevented the father of the baby's participation. We report that the mother's insurance type, whether the father has insurance, relationship status, and knowledge of the carrier screen showed statistically significant differences between women whose partners underwent screening and those that did not. In summary, our finding suggests that increasing insurance coverage of paternal screening and improving the patient's knowledge of the expanded screen would encourage paternal screening.

中文翻译：

---

母体结果阳性后对父系扩大携带者筛查的认知障碍：筛查或不筛查

扩大的携带者筛查可识别有生育常染色体隐性遗传病儿童风险的个体。最准确的风险评估要求父母双方都进行携带者筛查，以确定他们是否是相同常染色体隐性遗传病的携带者。被确定为患有相同疾病的携带者的夫妇有 25% 的机会生下患有这种疾病的孩子。然而，父亲并不总是在母亲获得阳性结果后选择携带者筛查。这项研究旨在确定在母亲发现阳性后阻止父亲进行携带者筛查的障碍。共有 58 名女性参加了这项研究。所有参与者在研究前都接受了扩大的携带者筛查，并会见了遗传顾问进行预测试知情同意会议。在 58 名女性中，34 名的伴侣没有接受筛查，24 名的伴侣接受了筛查。参与者完成了一项调查，以确定阻碍婴儿父亲参与的障碍。我们报告说，母亲的保险类型、父亲是否有保险、关系状况以及对携带者筛查的了解在其伴侣接受筛查的女性与未接受筛查的女性之间显示出统计学上的显着差异。总之，我们的研究结果表明，增加父亲筛查的保险范围和提高患者对扩大筛查的了解将鼓励父亲筛查。我们报告说，母亲的保险类型、父亲是否有保险、关系状况以及对携带者筛查的了解在其伴侣接受筛查的女性与未接受筛查的女性之间显示出统计学上的显着差异。总之，我们的研究结果表明，增加父亲筛查的保险范围和提高患者对扩大筛查的了解将鼓励父亲筛查。我们报告说，母亲的保险类型、父亲是否有保险、关系状况以及对携带者筛查的了解在其伴侣接受筛查的女性与未接受筛查的女性之间显示出统计学上的显着差异。总之，我们的研究结果表明，增加父亲筛查的保险范围和提高患者对扩大筛查的了解将鼓励父亲筛查。