Preparing to parent a child with a genetic condition: Key stakeholders weigh in on prenatal genetic testing and its implications

Genetic testing has become ubiquitous in prenatal care, under the assumption that genetic information helps families make pregnancy outcome decisions. However, insufficient research has addressed whether and how prenatal genetic information benefits families continuing a pregnancy, since the concept of prenatal preparation is largely undefined and under-investigated. As part of a wider qualitative study conceptualizing prenatal preparation, we conducted longitudinal interviews with parents whose child was diagnosed with a prenatally discoverable genetic condition at three health systems in geographically diverse US regions, and single interviews with clinicians in those health systems who deliver prenatal diagnoses and/or provide follow-up care. Parents were interviewed once prenatally, when possible, and twice postnatally. Interviews with parents and clinicians discussed meanings of and approaches to prenatal preparation, including ways that genetic test results were delivered and supported from pregnancy through one-year post-birth. Families shared that receiving information prenatally allowed them to begin the diagnostic journey earlier and seek out appropriate medical and social support. Healthcare providers emphasized the importance of emotional and clinical support and follow-up care for processing diagnoses, accessing support networks, and navigating the healthcare system. Our findings suggest that as the scope and ubiquity of prenatal genetic screening increase, more families will receive uncertain and rare chromosomal results, with significant pragmatic challenges to appropriate support systems. Although preparation is a justification often provided for widespread prenatal genetic screening, that preparation requires access to adequate condition-specific medical, informational, and social support; without these, families face challenges processing genetic results.

Kaitlynn Craig, MA, MHM – Research Coordinator, Department of Bioethics, Case Western Reserve University; Marsha Michie, PhD – Associate Professor of Bioethics, Department of Bioethics, Case Western Reserve University; Kirsten A. Riggan, MA MS – Biomedical Ethics Research Program, Mayo Clinic