RISK AND UNCERTAINTY: SHIFTING DECISION-MAKING FOR ANEUPLOIDY SCREENING TO THE FIRST TRIMESTER OF PREGNANCY

Purpose:  The clinical introduction of first trimester fetal aneuploidy screening shifts decision-making about prenatal genetic testing from the second trimester into the early weeks of pregnancy, a very different time in the pregnancy. This study investigated key aspects of the decision-making process for this new form of prenatal genetic screening to identify both barriers to informed decision-making and areas for targeted educational interventions directed to improve informed consent. 

Method:  Female patients were recruited from outpatient OB/GYN clinics in Cleveland. Qualitative data was collected with focus groups conducted with participants divided into one of three groups based upon reproductive histories. Nine groups (N= 46 participants) were conducted in 2009. Sessions were audio-recorded and transcribed. Data were coded and analyzed using NVivo 8 software. 

Result: Uncertainty was the predominant theme of the focus group discussions. Participants experienced a high level of uncertainty at baseline during the first trimester compared to the second, with issues regarding fetal health, maternal health, and outcome of the early pregnancy at the forefront. Participants expressed decisional conflict about the perceived benefits of initiating screening in the first trimester compared to waiting until the second trimester, specifically when weighing its risks and benefits in the context of the early weeks of pregnancy when miscarriage and pregnancy outcome may be in question. Access to information about this test was cited as an additional source of uncertainty regarding the ability to make an informed about first trimester screening. Participants were concerned about the limited time frame to make informed decisions about this test given that clinical practice patterns generally defer the initiation of prenatal care until the later half of this trimester.  

Conclusion:  First trimester aneuploidy screening was developed with the idea that earlier access to fetal genetic information is preferable than waiting until the second trimester of pregnancy. However, shifting decision-making about prenatal aneuploidy screening into the first trimester introduces unique challenges for patients and providers. Though this new form of prenatal genetic screening provides earlier access to information about the fetus, it also generates several levels of uncertainty that can interfere with education and informed consent processes. Evidence-based mechanisms need to be developed to facilitate patients’ informed decision-making for this new form of prenatal genetic screening.