Abstract
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.
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Data availability
The data supporting reported findings are available upon request from the corresponding author subject to the rules and restrictions of the Texas A&M University Institutional Review Board
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Acknowledgements
The authors wish to thank collaborating prenatal clinics and all the participants who participated in this study.
Funding
This study was funded by the T3: Texas A&M Triads for Transformation grant from Texas A&M University (Principal Investigator: Lei-Shih Chen).
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Conceptualization, Lei-Shih Chen, Wei-Ju Chen, Robin Page, Nora Montalvo-Liendo, and Patricia Robbins-Furman. Methodology, software, and data analysis, Melodie Tedross, Christine Young, Haocen Wang, Denise Martinez, Nora Montalvo-Liendo, and Lei-Shih Chen. The first draft of the manuscript was written by Embedzayi Madhiri, Melodie Tedross, Victoria Vidal. Writing (reviewing, and editing), Embedzayi Madhiri, Haocen Wang, Melodie Tedross, Victoria Vidal, Wei-Ju Chen, Patricia Robbins-Furman, Robin Page, and Nora Montalvo-Liendo, and Lei-Shih Chen. Supervision, Lei-Shih Chen. Funding acquisition Lei-Shih Chen, Robin Page, and Nora Montalvo-Liendo. All authors have read and agreed to the published version of the manuscript.
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The study was conducted in accordance with the Declaration of Helsinki and approved by the Institutional Review Board at Texas A&M University (protocol code IRB2019-0286D).
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Madhiri, E., Wang, H., Tedross, M. et al. Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?. J Community Genet 14, 605–612 (2023). https://doi.org/10.1007/s12687-023-00676-6
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DOI: https://doi.org/10.1007/s12687-023-00676-6