Madhiri Embedzayi, Wang Haocen, Tedross Melodie, Vidal Victoria, Young Christine, Martinez Denise, Chen Wei-Ju, Robbins-Furman Patricia, Page Robin, Montalvo-Liendo Nora, Chen Lei-Shih
Deparment of Health Behavior, School of Public Health, Texas A&M University, College Station, TX, USA.
School of Nursing, Purdue University, West Lafayette, IN, USA.
J Community Genet. 2023 Dec;14(6):605-612. doi: 10.1007/s12687-023-00676-6. Epub 2023 Oct 14.
The American College of Medical Genetics and Genomics (ACMG) recommends carrier screening for all pregnant women regardless of race or ethnicity. In recent years, the ACMG broadened the guidelines to include expanded carrier screening (ECS) which can screen for 112 conditions. This study seeks to explore the perceptions of pregnant Latina women about the benefits and concerns related to ECS use. Partnering with prenatal clinics in Texas, we conducted semi-structured qualitative interviews with 32 pregnant Latina women in their second or third trimester of pregnancy. NVivo 8 was used to conduct content analysis and emergent coding of the data. Participants reported the benefits of ECS as helping them prepare for the baby's arrival, informing them of the baby's risk for genetic conditions, ensuring the health of their baby, and preventing diseases before birth. The ECS-related concerns expressed by the participants included worries surrounding potential positive ECS results, insufficient knowledge about the genetic diseases screened for by ECS, the accuracy of the ECS, the potential harm ECS may cause the baby, and the affordability of ECS. After weighing both their perceived benefits and concerns, nearly all the participants believed that ECS should be offered to all pregnant women. This study contributes to an understudied research area in the genetic/genomic field. Our findings can help increase the awareness of obstetricians, genetic professionals, and other healthcare providers regarding pregnant Latina women's views on ECS and inform the design of culturally appropriate care as ECS is adopted into routine clinical practice.
美国医学遗传学与基因组学学会（ACMG）建议对所有孕妇进行携带者筛查，无论其种族或族裔如何。近年来，ACMG扩大了指南范围，纳入了可筛查112种疾病的扩展携带者筛查（ECS）。本研究旨在探讨拉丁裔孕妇对使用ECS的益处和担忧的看法。我们与德克萨斯州的产前诊所合作，对32名处于妊娠中期或晚期的拉丁裔孕妇进行了半结构化定性访谈。使用NVivo 8对数据进行内容分析和浮现编码。参与者报告称，ECS的益处包括帮助他们为宝宝的到来做好准备、告知他们宝宝患遗传病的风险、确保宝宝的健康以及在出生前预防疾病。参与者表达的与ECS相关的担忧包括对ECS可能出现的阳性结果的担忧、对ECS所筛查的遗传病知识不足、ECS的准确性、ECS可能对宝宝造成的潜在危害以及ECS的可承受性。在权衡了他们所认为的益处和担忧之后，几乎所有参与者都认为应该向所有孕妇提供ECS。本研究为遗传/基因组领域一个研究较少的领域做出了贡献。我们的研究结果有助于提高产科医生、遗传专业人员和其他医疗服务提供者对拉丁裔孕妇对ECS看法的认识，并在ECS被纳入常规临床实践时为设计符合文化背景的护理提供参考。
