Validation of Prenatal Cell-Free DNA Screening Knowledge Scale in a Diverse Population
No Thumbnail Available
Authors
Patel, Saumya
Issue Date
2025-05-01
Type
thesis_closed
Language
Keywords
cell-free DNA , knowledge scale , validation , informed decision making , multidimensional measure of informed consent (MMIC) , face and content validity , Genetics
Medicine and Health Sciences
Alternative Title
Human Genetics Theses
Abstract
Prenatal cell-free DNA (cfDNA) screening, also known as non-invasive prenatal screening (NIPS), is widely recommended by American College of Medical Genetics (ACMG) and The American College of Gynecologists and Obstetricians (ACOG) as a first-line screening tool for all pregnant individuals. However, to ensure true informed decision-making, patients must have a clear understanding of the test’s scope, limitations, and implications. While tools such as the Multidimensional Measure of Informed Choice (MMIC) aim to assess informed decision-making by incorporating knowledge, attitudes, and behavior, the knowledge component of the cfDNA screening MMIC has not yet been validated in a diverse population. This study aimed to establish face and content validity of an English prenatal cfDNA screening knowledge scale developed by the NSGC Research, Quality, and Outcomes (RQO) Committee. Ten English-speaking pregnant participants from diverse racial and educational backgrounds were recruited from clinical sites and social media platforms. Participants underwent cognitive interviews to assess understanding and relevance of the knowledge scale’s eight items. Interview responses were analyzed using a “traffic light” coding system to evaluate alignment with the intended meaning of the item. Findings demonstrated strong face and content validity, with all participant responses aligned with the intended meaning of the items. Additionally, all items were rated as either “important” or “helpful” for prenatal decision-making. Key revisions of the items included clarifying ambiguous terminology, such as replacing the words “negative” with “low risk” and “positive” with “high risk”, based on the participant feedback. This is the first study to successfully validate the cfDNA screening knowledge scale in a diverse population and highlights the potential of community-based recruitment strategies. The validated knowledge scale can be incorporated into an MMIC to support equitable, informed prenatal screening decisions to improve counseling outcomes across varied populations. Future research can explore the validation efforts in populations that include participants who identify as Black or African American and participants with non-university degrees.
Description
Citation
Publisher
License
true