ABSTRACT: Prenatal genetic testing guidelines have focused on identifying women at increased risk of giving birth to infants with chromosomal abnormalities. The current complexity of prenatal testing decision making has generated concerns about the potential for erosion of informed choice. This randomized clinical trial of a multifaceted approach to prenatal testing was designed to promote preference-based decision making and to assess the prenatal testing choices women make in the context of being fully informed about testing options.
Recruited parturients were English or Spanish speaking, were at 20 weeks’ gestation or less with a singleton or twins, and had not had any prenatal testing for fetal aneuploidy. They completed an interviewer-administered baseline questionnaire and were randomized to the intervention or control group. Those in the intervention group had access to a computerized, interactive, prenatal testing decision-support guide in their preferred language; they were told that after using it the study would pay for any tests for which they lacked insurance coverage. Women in the control group received usual care, but no additional study intervention or financial support to cover prenatal genetic testing. At 24 to 36 weeks’ gestation, patient-reported outcomes were measured during a 20-minute telephone interview. The goal was to determine what choices women of varying literacy levels and sociodemographic backgrounds would make after being fully informed about the benefits and risks of different prenatal testing strategies and having the opportunity to clarify their values around these options, without having to pay for tests not covered by their insurance. Women in the experimental group used Prenatal Testing: Exploring Your Options, a decision-support audio-, video-, and text-based interactive computer program adapted for women of varying literacy levels. The program provides an educational module, a personalized section for the parturient, and a values clarification section. Completion of the program takes ∼45 to 60 minutes. The primary outcome was use of invasive prenatal diagnostic testing. Secondary outcomes were testing strategy used and knowledge, risk comprehension, decisional conflict, and decision regret. All reported analyses were based on a modified intention-to-treat sample that excluded women who miscarried at less than 11 weeks’ gestation.
Of 1932 women screened, 1297 were eligible, and 744 enrolled in the study, a 57.3% participation rate; 375 and 369 women, respectively, were randomized to the intervention and control groups. After randomization, 34 women miscarried at less than 11 weeks, leaving 357 in the intervention group and 353 in the control group. The patients were diverse in ethnicity, preferred language, and education. In the intervention group, 5.9% underwent diagnostic testing compared with 12.3% in the control group (odds ratio [OR], 0.45; 95% confidence interval [CI], 0.25–0.80; P = 0.005). Women in the intervention group were more likely to have no testing (25.6% vs 20.4%; OR, 3.30; 95% CI, 1.43–7.64; P = 0.005) or screening alone (68.5% vs 67.3%; OR, 2.67; 95% CI, 1.19–5.97; P = 0.02; reference group screening followed by invasive diagnostic testing). Women in the intervention group had a knowledge score of 9.4 of a total of 15 compared with 8.6 for controls (P = 0.82; 95% CI, 0.34–1.31; P < 0.001) and were more likely to correctly report the miscarriage risk of amniocentesis (73.8% vs 59.0% correct; OR, 1.95; 95% CI, 1.39–2.75; P < 0.001) and their age-adjusted likelihood of carrying a fetus with trisomy 21 (58.7% vs 46.1% correct; OR, 1.66; 95% CI, 1.22–2.28; P = 0.001). Significant differences were not apparent for decisional conflict and decision regret. For the 264 women in the intervention group who completed the educational section of the program, as well as the decision-clarification exercises, 75% underwent the strategy that was suggested by the program as being best aligned with their values.
After women received complete prenatal testing information and the opportunity to consider their values and preferences, they were less likely to undergo invasive testing and more likely to avoid testing for aneuploidy. Full implementation of prenatal testing guidelines may lead to more informed and preference-based prenatal testing decision making.
Department of Obstetrics, Gynecology, and Reproductive Sciences (M.K., S.P., J.T.B., S.N., J.V., M.E.N.), Department of Epidemiology and Biostatistics (M.K.), The Medical Effectiveness Research Center for Diverse Populations (M.K., S.E.G.), and Department of Medicine (S.E.G.), University of California, San Francisco; Department of Obstetrics and Gynecology, Santa Clara Valley Medical Center, San Jose (A.S.), CA; Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR (A.B.C.); and La Clínica de la Raza (S.S.) and Alameda County Health System (L.P.), Oakland, CA