Department of Health Behavior, Texas A&M University, College Station, Texas, USA.
Shcool of Nursing, Purdue University, West Lafayette, Indiana, USA.
J Genet Couns. 2023 Aug;32(4):887-895. doi: 10.1002/jgc4.1696. Epub 2023 Mar 22.
With the advance of genetic technologies, the use of expanded carrier screening (ECS) in the prenatal setting is growing. ECS tests for a wide range of inherited genetic disorders regardless of racial/ethnic background and family history. Latinxs are an important ECS stakeholder group as they are the largest minority group with the highest fertility rate in the United States. Yet, the Latinx population has, to date, been underrepresented and understudied in genetics/genomics research. We conducted a study to explore the knowledge and perspectives of pregnant Latinas regarding ECS in which descriptive statistics and content analysis were used to analyze the data. Thirty-two pregnant Latinas - mostly of low educational levels (no education beyond high school) and with less than $20,000 annual household income living in rural areas were surveyed, provided with education about ECS, and interviewed. Participants were found to possess limited knowledge about ECS prior to being interviewed. Most (68.8%), however, expressed interest in pursuing ECS following the educational component that explained ECS. Their interest was mainly driven by the desire to know their baby's chance of developing a genetic disorder, the low risk of ECS procedures for both pregnant Latinas and their fetus, and the opportunity to better prepare for raising a child with a genetic condition. Our findings contribute to the limited research in the genetics/genomics field by providing in-depth insights into the perspectives of pregnant Latinas regarding ECS. Obstetric providers and genetic counselors should provide culturally appropriate education and counseling to empower pregnant Latinas to make informed decisions about the use of ECS.
随着基因技术的进步，产前扩展携带者筛查（ECS）的应用越来越广泛。ECS 测试针对广泛的遗传性疾病，无论种族/民族背景和家族史如何。拉丁裔是 ECS 的一个重要利益相关者群体，因为他们是美国最大的少数族裔群体，生育率最高。然而，迄今为止，拉丁裔人口在遗传学/基因组学研究中代表性不足，研究也不足。我们进行了一项研究，探讨了孕妇对 ECS 的知识和看法，研究中使用了描述性统计和内容分析来分析数据。我们调查了 32 名怀孕的拉丁裔妇女，她们大多教育程度较低（高中以上学历），年收入低于 20,000 美元，居住在农村地区。我们为她们提供了有关 ECS 的教育，并对她们进行了采访。研究发现，参与者在接受采访前对 ECS 的了解有限。然而，大多数（68.8%）在接受了解释 ECS 的教育部分后，表示有兴趣进行 ECS。她们的兴趣主要是出于了解婴儿患遗传疾病的机会、ECS 对孕妇及其胎儿的低风险以及为生育患有遗传疾病的孩子做好更好准备的愿望。我们的研究结果为遗传学/基因组学领域的有限研究做出了贡献，深入了解了孕妇对 ECS 的看法。产科医生和遗传咨询师应提供文化适宜的教育和咨询，以使孕妇能够就 ECS 的使用做出明智的决策。
