791 Psychological outcomes among women pursuing Trio-Exome-Sequencing (ES) in the setting of recurrent anomalous fetal phenotypes

Abstract

To describe psychological outcomes among women with recurrent fetal phenotypes using ES for diagnosis compared to women with one affected pregnancy. Prospective ES study that enrolled patients with any major fetal anomaly and normal microarray after genetic counseling. All participants agree to learn: 1) findings that explain the fetal phenotype; 2) medically actionable secondary findings in a parent (e.g. BRCA), or carrier couple status for significant autosomal recessive disease. Women completed validated scales and free responses before and after ES. Psychological outcomes were compared between women with recurrent fetal phenotypes and those with only one affected pregnancy. Free responses were compared using thematic content analysis. 177 trios were enrolled; of those, 123 have sequencing data. 30 (24.4%) pursued ES for recurrent affected pregnancies; 11received a fetal result (36.7%). Diagnostic yield in overall cohort was lower (31.7%). Maternal demographic characteristics of those with recurrent phenotypes did not differ from the cohort overall. There was no significant difference in pre and post-ES anxiety, depression, or decisional conflict scores between the two groups. However, women with recurrent anomalous phenotypes had significantly higher uncertainty scores (12.4 vs. 9.6 p= 0.03) and overall scored worse on the Multidimensional Impact (MICRA) Questionnaire (36.1 vs. 28.9 p=0.03) (Table 1). As such, those with recurrent phenotypes reported testing for the following reasons: 1) to inform future reproductive decisions and diagnosis; 2) personal and spousal health. A common narrative within this group was having “no personal expectations." By contrast, those with a first affected pregnancy had more hope for: (1) diagnosis of the pregnancy, (2) advancing science and “helping others,” and (3) personal reassurance or “closure” (Figure 1). Women pursuing ES in the setting of recurrent anomalous phenotypes may pursue sequencing for different reasons than women with a single affected pregnancy and may be more impacted by test-related uncertainty.View Large Image Figure ViewerDownload Hi-res image Download (PPT)