Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort



To evaluate associations between prenatal trio exome sequencing (trio-ES) and psychological outcomes among women with an anomalous pregnancy.


Trio-ES study enrolling patients with major fetal anomaly and normal microarray. Women completed self-reported measures and free response interviews at two timepoints: pre- (1) and post- (2) sequencing. Pre-sequencing responses were compared with post-sequencing responses; post-sequencing responses were stratified by women who received trio-ES results that may explain fetal findings, secondary findings (medically actionable or couples with heterozygous variants for the same recessive disorder), or negative results.


One hundred fifteen trios were enrolled. Of those, 41/115 (35.7%) received results from trio-ES, including 36 (31.3%) who received results that may explain the fetal phenotype. These women had greater post-sequencing distress compared with women who received negative results, including generalized distress (p = 0.03) and test-related distress (p = 0.2); they also had worse psychological adaptation to results (p = 0.001). Genomic knowledge did not change from pre- to post-sequencing (p = 0.51).


Women show more distress after receiving trio-ES results compared with those who do not, suggesting that women receiving results may need additional support or counseling to inform current and future reproductive decisions.

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Fig. 1: Study design and surveys included at Timepoints 1 and 2 (pre and post-sequencing).

Data availability

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.


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We acknowledge the support of University of North Carolina Division of Maternal Fetal Medicine and Division of Reproductive Genetics and institutions that have referred patients to our center for participation in the study.

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Corresponding author

Correspondence to Asha N. Talati MD MS.

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Author contributions

Conceptualization: A.N.T, K.L.G, E.H, A.D.L, C.R., N.L.V; Data curation: A.N.T, K.L.G, E.H, A.D.L, C.R, N.L.V; Formal Analysis: A.N.T, K.L.G, A.D.L, C.R, N.L.V; Funding Acquisition: K.L.G, C.R., N.L.V; Investigation: A.N.T, K.L.G, E.H, A.D.L, C.R., N.L.V; Methodology: A.N.T, K.L.G, E.H, A.D.L, C.R., N.L.V; Project administration: K.L.G, E.H, N.L.V; Resources: K.L.G, N.L.V; Software: A.N.T Supervision: N.L.V Validation: A.D.L, C.R; Visualization: A.N.T Writing- original draft: A.N.T, K.L.G, E.H, N.L.V; Writing – review & editing: A.N.T, K.L.G, E.H, A.D.L, C.R., N.L.V.

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The authors declare no competing interests.

Ethics declaration

The work was funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) grant award number K23HD088742 (principal investigator N.L.V.). The University of North Carolina at Chapel Hill institutional review board (13–4084) provided approval for this study. Informed consent was obtained for each enrolled study participant.

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Talati, A.N., Gilmore, K.L., Hardisty, E.E. et al. Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort. Genet Med (2020).

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