Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy

Vitalia Libman, Yechiel Friedlander, Michal Chalk, Hagit Hochner, Shiri Shkedi-Rafid*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Background: Chromosomal microarray analysis (CMA) may detect variants of uncertain clinical significance (VUS) and susceptibility loci (SL) with incomplete penetrance for neurodevelopmental disorders. This qualitative study provides empirical data on women's experiences with receiving such findings in pregnancy and their decisions regarding continuation or termination of the pregnancy. Methods: Semi-structured interviews were conducted with women who received a VUS and/or SL from prenatal CMA in the last 2–4 years and were analyzed using Grounded Theory. Results: The vast majority of women recalled being stressed by the findings. All women sought further advice and information to be able to decide whether to continue or terminate their pregnancy. The three pregnancies that were terminated have in common a de novo SL with a 10%–20% penetrance. Similar reasoning (coping with uncertainty, the quest for a perfect child, and a chance for recurrence in future pregnancies) led different women to contradicting conclusions regarding their pregnancies. All women felt satisfied with their decisions. Conclusion: Although uncertain/probabilistic information commonly involves a psychological burden, it may also be perceived as valuable and actionable. Pre-test parental choice regarding the disclosure of such information could allow personalized utilization of advanced genomic tests in pregnancy.

Original languageAmerican English
Pages (from-to)773-780
Number of pages8
JournalPrenatal Diagnosis
Issue number3
StatePublished - Jun 2023

Bibliographical note

Funding Information:
The authors would like to thank all the women who participated in these interviews without whom this study would not have been possible. This work was supported by the Israel National Institute for Health Policy Research (grant no. 2015/82).

Publisher Copyright:
© 2023 John Wiley & Sons Ltd.


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