A Conceptual Roadmap toward Informed Prenatal Genetic Screening and Diagnostic Testing: A Qualitative Study

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Abstract
Introduction: Prenatal genetic screening and diagnostic tests (PS&D) are a core component of the delivery of high-quality, evidence-based prenatal care. There is a paucity of evidence on how to structure decision-making processes that are responsive to rapid advances in prenatal genetics, perinatology, and neonatology, which complicate such decisions. We sought to explore patients’ decision-making preferences as a pathway to support medical decisions about the informed use of prenatal genetic testing, which requires more than standardized counseling and underscores the importance of PS&D. Methods: We conducted a qualitative preference study of pregnant and postpartum patients to characterize experiences with PS&D. In-depth semi-structured interviews were conducted to explore decision-making needs and preferences regarding PS&D. Demographics, reproductive history, and PS&D use data were collected from the electronic medical record. Thematic analysis was used to identify leading themes. Results: Most participants were ≥35 y of age ( n = 48/61; 78.7%) and had a prior pregnancy ( n = 42/61; 68.9%). The analysis identified 2 superordinate themes related to patients’ preferred decision-making approach needed to set the stage to make an informed choice about PS&D: 1) a comprehensive approach in which the full scope of pretest and posttest options are outlined before using or declining PS&D or 2) a step-by-step approach with pacing of information acquisition and decision-making in response to individual options. Conclusions: Our findings suggest that supporting prenatal genetic testing decisions requires more than standardized counseling and underscores the importance of understanding patients’ preferences for decision making and information delivery. These preferences should be considered alongside factors such as reproductive history and maternal age, which may further shape how testing options and outcomes are understood. Together, these findings reinforce the need for a more individualized approach to counseling in an increasingly complex prenatal testing landscape.
Funding Information
  • National Human Genome Research Institute (R56HG014415)

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