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

• Published in: Prenatal diagnosis 2024-03, Vol.44 (3), p.270-279
• Main Authors: Libman, Vitalia, Macarov, Michal, Friedlander, Yechiel, Hochner‐Celnikier, Drorith, Sompolinsky, Yishai, Dior, Uri P., Osovsky, Michael, Basel‐Salmon, Lina, Wiznitzer, Arnon, Neumark, Yehuda, Meiner, Vardiella, Frumkin, Ayala, Hochner, Hagit, Shkedi‐Rafid, Shiri
• Format: Article
• Language: English
• Subjects: Attitudes; Autism; Disclosure; Female; Fetuses; Humans; Multiple choice; Neurodevelopmental disorders; Penetrance; Pregnancy; Prenatal Care; Prenatal Diagnosis; Risk levels; Uncertainty; Women
• ISSN: 0197-3851; 1097-0223; 1097-0223
• DOI: 10.1002/pd.6518

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