Genetic testing has become ubiquitous in prenatal care, historically with the assumption that genetic information aids decisions about pregnancy continuation. But for families choosing to continue a pregnancy, it is unclear whether and how prenatal genetic information holds benefit, since the concept of prenatal preparation is largely undefined and under-investigated. As part of a qualitative study conceptualizing prenatal preparation, we conducted longitudinal interviews with parents receiving pre-and/or post-natal genetic information at three US health systems, and interviewed clinicians who deliver prenatal diagnoses or provide follow-up care. Parents and clinicians discussed meanings of and approaches to preparation, including ways that genetic test results were delivered and how families were supported from pregnancy through one-year post-birth. Parents noted that receiving information prenatally allowed them to adapt to their child’s condition earlier and seek out appropriate medical care and social support. Healthcare providers emphasized the importance of genetic information for pursuing emotional and clinical support, accessing support networks, and navigating the healthcare system. However, as the scope and pervasiveness of prenatal genetic testing increase, more families will receive uncertain and rare chromosomal results, with significant pragmatic challenges to support systems within and outside healthcare institutions. Our findings suggest prenatal preparation requires access to condition-specific medical, informational, and social support; without these, the benefits of prenatal genetic information for families may be largely unrealized.
Authors: Sabina Rubeck, Department of Bioethics, Case Western Reserve University School of Medicine; Jewels Watts, Department of Bioethics, Case Western Reserve University School of Medicine; Megan Allyse, Mayo Clinic; Aaron Goldenberg, Department of Bioethics, Case Western Reserve University School of Medicine; Siobhan M. Dolan, Stamford Health; Kirsten A. Riggan, Mayo Clinic; Larisa Rippel, University Hospitals Cleveland Medical Center; Neeta Vora, University of North Carolina - Chapel Hill; Marsha Michie, Department of Bioethics, Case Western Reserve University School of Medicine
