Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance

Vitalia Libman, Michal Macarov, Yechiel Friedlander, Drorith Hochner-Celnikier, Yishai Sompolinsky, Uri P. Dior, Michael Osovsky, Lina Basel-Salmon, Arnon Wiznitzer, Yehuda Neumark, Vardiella Meiner, Ayala Frumkin, Hagit Hochner*, Shiri Shkedi-Rafid

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Chromosomal-microarray-analysis (CMA) may reveal susceptibility-loci (SL) of varied penetrance for autism-spectrum-disorder (ASD) and other neurodevelopmental conditions. Attitudes of women/parents to disclosure of SL during pregnancy are understudied. Methods: A multiple-choice questionnaire was distributed to postpartum women. Data were collected on women's interest to receive prenatal genetic information with various levels of penetrance. Results: Women's (n = 941) disclosure choices were dependent on the magnitude of risk: approximately 70% supported disclosure of either full or 40% penetrance, 53% supported disclosure at a 20% risk threshold, and 40% supported disclosure at 10% or less. Although most women supported, rejected or were indecisive about disclosure consistently across all risk levels, nearly one-quarter (24%) varied their responses based on penetrance, and this was associated with religiosity, education, parity and concern about fetal health (p-values <0.04). Among those who varied their choices, the risk threshold was lower among secular women (20%) than among ultraorthodox women (40%). In a multivariable analysis, ultraorthodox women were much less likely to vary their choices on ASD disclosure compared with secular women (aOR = 0.37, p < 0.001). Conclusion: Women's attitudes toward disclosure are influenced by the level of risk and their individual characteristics. We therefore encourage engaging women/couples in disclosure decisions regarding uncertain and probabilistic results from prenatal genomic tests.

Original languageEnglish
Pages (from-to)270-279
Number of pages10
JournalPrenatal Diagnosis
Volume44
Issue number3
DOIs
StatePublished - Mar 2024

Funding

FundersFunder number
Israel National Institute for Health Policy Research2015/82

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