Purpose: This study was designed to assess the decision making process that pregnant women undertake when considering the use of newly developed fetal genetic screening tests with the aim of improving the informed consent process for the clinical translation of new reproductive genetic technologies. First trimester aneuploidy screening, a new test to detect fetal chromosomal disorders (e.g. Down syndrome), was the model used to identify informational needs, values, and factors that play a role in the decision making process.
Method: We recruited participants from Cleveland Clinic Health System outpatient OB/GYN clinics. A total of 46 participants were recruited for nine focus groups composed of 4-6 participants. Focus groups were 1.5 hours and were led by the same facilitator. The content of the sessions were audio recorded and transcribed. Themes identified and transcripts were coded using NVivo. Participants also completed a quantitative survey assessing demographics, knowledge and experiences with prenatal testing. Quantitative data analysis was performed using R.
Result: Most participants were aged 26-30 (34%) or 31-35 (25%), Caucasian (72%) or African American (23%), and had either a college (53%) or graduate (30%) degree. Over half (63%) were currently pregnant, 68% with >1 prior pregnancy and 41% who had undergone 1st trimester screening. Emerging themes pertained to the short time window to make decisions about genetic testing in the first trimester of pregnancy and challenges to acquiring and processing new information during a period of intense emotional and physical changes. Other themes included the difficult task of weighing the risks of testing, including fetal loss from miscarriage or termination and maternal anxiety and increased uncertainty in addition to the lack of resources to make this type of decision.
Conclusion: Pregnant women face a unique set of challenges when considering prenatal fetal genetic testing. First trimester screening amplifies these challenges with the short time frame in which patients must obtain and integrate a large amount of medical information to formulate informed and value-consistent decisions in the first weeks of pregnancy. Few mechanisms exist to assist patients in this complex decision making process. Our findings demonstrate need to develop decision aides in conjunction with the translation of new genetic technology to support women with these important decisions.
Candidate for the Lee B. Lusted Student Prize Competition