Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Cleveland Clinic Foundation, Genomic Medicine Institute, Cleveland, OH, USA.
J Genet Couns. 2021 Apr;30(2):470-477. doi: 10.1002/jgc4.1333. Epub 2020 Oct 3.
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.
扩展携带者筛查可识别出有生育常染色体隐性疾病患儿风险的个体。最准确的风险评估需要母亲和父亲都进行携带者筛查，以确定他们是否携带相同的常染色体隐性疾病。如果一对夫妇被确定为携带相同疾病，那么他们生育该疾病患儿的概率为 25%。然而，在母亲的检测结果呈阳性后，父亲并不总是选择进行携带者筛查。本研究旨在确定在母亲的阳性检测结果后阻碍父亲进行携带者筛查的障碍。共有 58 名女性参与了这项研究。所有参与者在研究前都进行了扩展携带者筛查，并在预测试和知情同意会议上与遗传咨询师会面。在 58 名女性中，有 34 名女性的伴侣未进行筛查，24 名女性的伴侣进行了筛查。参与者完成了一份调查问卷，以确定阻止婴儿父亲参与的障碍。我们报告称，母亲的保险类型、父亲是否有保险、关系状况和对携带者筛查的了解在接受筛查和未接受筛查的女性之间存在统计学显著差异。总之，我们的研究结果表明，增加对父亲筛查的保险覆盖范围并提高患者对扩展筛查的了解，将鼓励父亲进行筛查。
