Is preparation a good reason for prenatal genetic testing? Ethical and critical questions

As prenatal genetic testing technologies have become both easier and more accessible, women are increasingly choosing prenatal genetic testing for a reason that is largely unexamined in the clinical literature: preparation. This reasoning, offered not only from pregnant women but frequently from testing laboratories and health care providers, reflects long-held assumptions that prenatal genetic results-properly delivered and followed with information, clinical surveillance, and/or social supports-prepare families for a child with a genetic condition, and even improve health and social outcomes for children and families. But these assumptions remain unexamined, since there are no clear definitions or recommendations for prenatal preparation. Preparation may refer to several overlapping ways in which prenatal information may change parents' approach to the rest of the pregnancy, including: (a) clinical activities, including surveillance, interventions, and delivery planning; (b) social and informational support, such as interacting with patient support groups and gathering information about quality of life; and (c) psychological "coping" or adjustments to the reality of raising a child with a genetic condition. These meanings and activities intersect and influence one another and form a foundation for postnatal family adaptation, but they are rarely parsed out in studies examining the impact of prenatal diagnosis. Based on previous work delineating conceptual models as middle terms between theory and reality, we are building a conceptual model that incorporates an empirical understanding of meanings and actions encompassed by prenatal preparation. Comparing diverse families' expectations with the resources they are offered can identify (mis)matches between priorities and approaches.