Enhancing patient autonomy with risk assessment and invasive diagnosis: an ethical solution to a clinical challenge.

Overview

The purpose of this study was to describe a clinically based, ethically justified informed consent process for risk assessment and invasive genetic diagnosis that enhances patient autonomy. Appealing to the ethical principle of respect for the autonomy of pregnant women, we show that patients can exercise their autonomy meaningfully in the informed consent process in response to the offer of risk assessment (RA) and invasive diagnosis (ID) and in response to the results of risk assessment. All pregnant patients in the first trimester should be offered both RA and ID. Women will sort themselves, in response, into 4 groups; those who refuse both RA and ID, those who are uncertain about RA, those who accept RA, and those who accept ID. Women who proceed to RA will sort themselves, in response to its results, into 3 groups: women for whom the risk of aneuploidy is acceptable or unacceptable and women who are not certain whether such risk is acceptable. For this last group only, the informed consent process should present information about current controversies of first-trimester and second-trimester further testing to better assess risk. Clinical strategies are identified for the implementation of the varied responses of pregnant women to the offer of RA and ID. Autonomy-enhancing strategies for the evaluation of pregnancy provide the basis for solving the ethical challenge that is presented by the wide variety of evaluation techniques.