The objective of this study was to assess the level of interest in preconception carrier screening among reproductive-aged persons presenting for gynecologic care and to identify demographic factors predictive of pursuing screening. Patients aged 18–40 who were presenting for gynecologic care at a single U.S. academic medical center were provided with information about current options for preconception carrier screening and were offered genetic counseling referral with the possibility to undergo screening. Outcomes of interest were desire for genetic counseling referral and attendance at genetic counseling visit. Statistical analyses were performed as appropriate using R version 3.6.1 with variables significant at 0.1 included in a multivariable logistic regression. Of 193 participants, 79 (41%) desired genetic counseling referral. Participants aged 25–34 (OR 3.39, 95% CI 1.47–8.10) and nulliparas (OR 2.69, 95% CI 1.23–6.03) were more likely to desire referral. Thirty-five participants (44.3% of those who desired referral) attended a visit with genetic counseling. Having an advanced degree (OR 3.27, 95% CI 1.06–10.4) was associated with visit attendance. Thirteen participants underwent screening, and five were found to be a carrier of at least one X-linked or autosomal recessive condition. Surprisingly, presenting for a gynecologic visit directly related to planning a pregnancy was not associated with increased interest in preconception carrier screening. Nulliparas and those aged 25–34 likely expressed greater interest in referral due to high potential for future childbearing in these groups. The increased level of visit attendance in participants with advanced degrees is likely confounded by the high level of health literacy and financial resources in this group.

中文翻译：

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当向在美国单一学术医疗中心寻求妇科护理的主要白人育龄人群提供孕前携带者筛查遗传咨询时，他们对遗传咨询的兴趣和接受度

本研究的目的是评估接受妇科护理的育龄人群对孕前携带者筛查的兴趣水平，并确定预测进行筛查的人口因素。向美国一家学术医疗中心就诊的 18-40 岁患者提供有关孕前携带者筛查当前选择的信息，并为他们提供遗传咨询转介，并有可能进行筛查。感兴趣的结果是希望遗传咨询转诊和参加遗传咨询访问。使用 R 版本 3.6.1 酌情进行统计分析，其中变量在 0.1 时显着，包括在多变量逻辑回归中。在 193 名参与者中，79 名（41%）希望获得遗传咨询转诊。25-34 岁的参与者（OR 3.39，95% CI 1.47-8.10）和初产妇（OR 2.69，95% CI 1.23-6.03）更有可能希望转诊。35 名参与者（44.3% 的希望转诊者）参加了遗传咨询访问。拥有高级学位（OR 3.27, 95% CI 1.06–10.4）与出勤率相关。十三名参与者接受了筛查，其中五人被发现是至少一种 X 连锁或常染色体隐性遗传病的携带者。令人惊讶的是，与计划怀孕直接相关的妇科就诊与对孕前携带者筛查的兴趣增加无关。Nulliparas 和 25-34 岁的人可能对转诊表现出更大的兴趣，因为这些群体未来生育的可能性很大。