UC Irvine

Non-invasive prenatal screening (NIPT) is a screening tool that utilizes maternal and fetal cell-free DNA to revise one’s risk of having a child with an abnormal number of chromosomes, also known as aneuploidy. Most patients experience satisfaction in their understanding of NIPT but still may not fully grasp the limitations of screening. The purposes of this study were to (1) investigate which patient demographics were associated with better knowledge about NIPT and how women make decisions about NIPT, and (2) determine if patients’ knowledge about NIPT improved after meeting with a genetic counselor. Surveys that assessed knowledge and decision-making about NIPT were sent before and after a patient’s prenatal genetic counseling appointment. Thirty-four participants completed the pre-counseling survey, and 30 participants completed the post-counseling survey. While the sample size was too small to draw any conclusions about how specific demographics influence decision-making about NIPT, the study showed that the most common reason for choosing to have NIPT was the desire to know as much information as possible about the fetus without invasive testing. Patients who had previously spoken with a doctor about NIPT or were considering having NIPT prior to their appointments had better knowledge before (p=.042 and p=.022, respectively) and after (p=.037 and p=.036, respectively) their appointments. Topics with higher knowledge scores included the possibility of NIPT resulting normally even if a birth defect is identified on ultrasound. Topics with lower knowledge scores included the potential for NIPT to fail to return a result and the potential for NIPT to determine maternal health issues. The study showed that genetic counseling significantly increased patients’ knowledge of NIPT (p=<0.001) and identified areas of greatest improvement, particularly regarding the possibility for a no-call result. These findings highlight topics that counselors may wish to focus on when assessing patient awareness of NIPT and support the important role genetic counselors play in educating patients about their prenatal testing options.