Thesis

One step closer to healthy: pregnant women's experiences and attitudes after cell free DNA screening

Background: Prenatal cell-free DNA (cfDNA) screening, also known as non-invasive prenatal testing (NIPT), has been supported by multiple professional societies as an option for all pregnant women. Rapid uptake and aggressive marketing have multiplied the demand, yet available clinic time for pre- and post-test counseling has not increased. Methods: Patients attending one of two Southern California prenatal clinics were given two surveys, one after a pre-test genetic counseling appointment, and one following delivery of low-risk results. Attitudes toward cfDNA testing and results were assessed using Likert-type categorical scales and open-ended response questions. Chi-square and ANOVA analysis were used to compare responses. Qualitative data was coded and analyzed by theme. Results: 457 women completed survey 1 and 321 completed survey 2. Women’s responses differed when asked about their feelings towards their baby or, separately, their pregnancy. When asked specifically about their baby, women more often mentioned themes related to unconditional love (bonding, sharing pregnancy news, termination not an option) (p=1x10-5) and used descriptions such as “healthy and normal” (p=1x10-5). When asked about their pregnancy, women more often used descriptions like “defects and/or abnormalities” (p=0.048) and positive feelings about cfDNA screening (p=1x10-5). Women mentioned reassurances from their results that were either justifiable or unjustifiable based on cfDNA technology and limitations. Women who mentioned justifiable reassurances quantified the impact of cfDNA on feelings towards their pregnancy/baby (through Likert-type response) as higher (p=1x10-5) than women who mentioned unjustifiable reassurances. Overall, more women mentioned reassurances from cfDNA results that were justifiable than unjustifiable. Discussion: The language used to describe the fetus (pregnancy or baby) impacted the themes and feelings expressed by women. Though individually counseled women in our study were more likely to express justifiable rather than unjustifiable reassurances, their comprehension, attitudes, and the impact of cfDNA results varied. Further research and health system assessments are needed to understand the effects of cfDNA results on women’s feelings towards their pregnancies.

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