Kaymak Didem, Kalaycı Tuğba, Sayın Gözde Yeşil, Karaman Birsen, Başaran Seher, Çebi Ceren, Başkapan Betül, Madazlı Rıza
Institute of Health Sciences, Department of Medical Genetics, Istanbul University, Istanbul, Turkey.
Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Education and Research Hospital, Istanbul, Turkey.
J Community Genet. 2025 Jul 16. doi: 10.1007/s12687-025-00821-3.
Prenatal screening and diagnostic tests are complex procedures that have to be conducted within a limited timeframe and require pregnant women to make rapid decisions. This study aimed to evaluate the knowledge and attitude of pregnant women by posing particular questions on screening and diagnostic tests, and to determine the correlation with sociodemographic and obstetric factors. A total of 259 pregnancies were enrolled to evaluate their knowledge of prenatal screening and diagnostic tests. Participants were categorized into groups and were presented with 5-point Likert-type questions. Based on the responses, each question was evaluated individually and scored. The mean age was 29.97 ± 5.63, the mean duration of marriage was 6.06 ± 5 years, and 32.8% of participants had a university degree or above. Among them, 52.1% (135/259) had not undergone prenatal screening tests. The percentage of recommended prenatal diagnostic testing was 37.1% (96/259). Demographic and obstetric characteristics were compared between those who underwent screening tests and those who did not. The percentage of screening tests was higher among employed women and those in consanguineous marriages. A statistically significant correlation was found between participants' consent for diagnostic testing, gestational week, employment status, and the type of screening test administered (p < 0.05). Questionnaire scores were significantly higher in both screened and unscreened groups among those with a university degree or higher. These findings emphasize the importance of informing pregnant women effectively, which may be achieved through a well-organized counseling network.
产前筛查和诊断测试是复杂的程序，必须在有限的时间内进行，并且要求孕妇迅速做出决定。本研究旨在通过提出关于筛查和诊断测试的特定问题来评估孕妇的知识和态度，并确定其与社会人口统计学和产科因素的相关性。共有259例妊娠被纳入研究，以评估她们对产前筛查和诊断测试的了解。参与者被分成不同组，并被问及五点李克特式问题。根据回答，对每个问题进行单独评估并打分。平均年龄为29.97±5.63岁，平均婚姻持续时间为6.06±5年，32.8%的参与者拥有大学及以上学历。其中，52.1%（135/259）的人未进行产前筛查测试。推荐进行产前诊断测试的比例为37.1%（96/259）。对进行筛查测试的人和未进行筛查测试的人的人口统计学和产科特征进行了比较。在职女性和近亲结婚者中进行筛查测试的比例更高。在参与者对诊断测试的同意情况、孕周、就业状况和所进行的筛查测试类型之间发现了统计学上的显著相关性（p<0.05）。大学及以上学历者在筛查组和未筛查组中的问卷得分均显著更高。这些发现强调了有效告知孕妇的重要性，这可以通过一个组织良好的咨询网络来实现。
