Čižek Sajko Mojca, Prosenc Bernarda, Vidmar Lovro, Njenjić Gordana, Duff Paula, Peterlin Borut
Borut Peterlin, Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia,
Croat Med J. 2024 Jun 13;65(3):189-197. doi: 10.3325/cmj.2024.65.189.
To determine the attitudes of pregnant couples toward carrier screening genomic tests.
A validated 22-item questionnaire was offered in person by medical staff to pregnant women ≥32 weeks' gestation and their partners attending prenatal classes from May to July 2014. The questionnaire inquired about demographic data, interest in various forms of genetic carrier screening tests, and genetic literacy.
Of 497 respondents, 69% expressed strong interest in carrier screening. The interested respondents exhibited substantial support for screening for common (82%) or all known genetic diseases (79%), as well as for treatable (79%) and untreatable diseases (85%). The majority of respondents believed that genetic test results could provide them with a sense of security but also provoke anxiety and fear. They were aware that these results could affect their perspective on life, work, and the atmosphere within their family, and acknowledged the potential effect on their relationship with their partner. However, none of these concerns diminished their desire to learn about their carrier status. Respondents with higher genetic literacy exhibited greater interest in screening tests (P=0.006). More non-religious respondents compared with practicing religious respondents (P=0.002), and more respondents with higher education compared with those with lower education, expressed interest in screening (P=0.003).
Most respondents expressed considerable interest in receiving information about their carrier status through genetic tests.
确定准父母对携带者筛查基因检测的态度。
2014年5月至7月,医护人员亲自向孕周≥32周的孕妇及其参加产前课程的伴侣发放一份经验证的包含22个条目的问卷。该问卷询问了人口统计学数据、对各种形式基因携带者筛查检测的兴趣以及基因知识水平。
在497名受访者中,69%表示对携带者筛查有浓厚兴趣。有兴趣的受访者对常见(82%)或所有已知遗传病(79%)的筛查,以及对可治疗(79%)和不可治疗疾病(85%)的筛查均表现出大力支持。大多数受访者认为基因检测结果既能给他们带来安全感,也会引发焦虑和恐惧。他们意识到这些结果可能会影响他们对生活、工作以及家庭氛围的看法,并承认这可能会对他们与伴侣的关系产生影响。然而,这些担忧都没有减少他们了解自身携带者状态的愿望。基因知识水平较高的受访者对筛查检测表现出更大的兴趣(P = 0.006)。与有宗教信仰的受访者相比,更多无宗教信仰的受访者(P = 0.002),以及与低学历受访者相比,更多高学历受访者(P = 0.003)表示对筛查感兴趣。
大多数受访者对通过基因检测了解自身携带者状态表现出相当浓厚的兴趣。