Informed Decision-Making in the Context of Prenatal Chromosomal Microarray
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i.e., chorionic villus sampling or amniocentesis). We employed a questionnaire that was adapted from a three-dimensional measure previously used to assess informed decision-making with respect to prenatal screening for Down syndrome and neural tube defects. This measure classifies an informed decision as one that is knowledgeable, value-consistent, and deliberated. Our questionnaire also included an optional open-ended question, soliciting factors that may have influenced the participants’ decision to accept prenatal CMA; these responses were analyzed qualitatively. Data analysis on 106 participants indicated that 49% made an informed decision (i.e., meeting all three criteria of knowledgeable, deliberated, and value-consistent). Analysis of 59 responses to the open-ended question showed that “the more information the better” emerged as the dominant factor influencing both informed and uninformed participants’ decisions to accept prenatal CMA. Despite learning about the key issues in pre-test genetic counseling, our study classified a significant portion of women as making uninformed decisions due to insufficient knowledge, lack of deliberation, value-inconsistency, or a combination of these three measures. Future efforts should focus on developing educational approaches and counseling strategies to effectively increase the rate of informed decision-making among women offered prenatal CMA.
KeywordsPrenatal Microarray Informed decision-making Deliberation Knowledge Value consistency Genetic counseling
This study was completed for fulfillment of the requirements for the first author’s Masters of Science degree from the University of Toronto and was funded by the University of Toronto MSc Genetic Counseling Fund.
Compliance with Ethical Standards
Conflict of Interest
Jessica Baker, Rachel Silver, Cheryl Shuman, David Chitayat, Nan Okun, Johannes Keunen, Renee Hofstedter, and Syed Wasim declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.
No animal studies were carried out by the authors for this article.
- Ajzen, I. (1996). The social psychology of decision making. In E. T. Higgins & A. W. Kruglanski (Eds.), Social psychology: handbook of basic principles. New York: Guilford Press.Google Scholar
- Charmaz, K. (2006). Constructing grounded theory: a practical guide through qualitative analysis. Los Angeles: Sage.Google Scholar
- Clarke, K., O'Loughlin, P., & Cashman, J. (2014). Standardised consent: the effect of patient information sheets on information retention. Irish Journal of Medical Science. Conference: 39th Sir Peter Freyer Memorial Lecture and Surgical Symposium. 183 (5 SUPPL. 1), p. pp S261. Galway Ireland: Springer-Verlag London Ltd.Google Scholar
- Fiorentino, F., Napoletano, S., Caiazzo, F., Sessa, M., Bono, S., Spizzichino, L., et al. (2013). Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. European Journal of Human Genetics, 21(7), 725–730.CrossRefGoogle Scholar
- Green, J., Hewison, J., Bekker, H., Bryant, L., & Cuckle, H. (2004). Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technology Assessment, 8 (33), iii, ix–x, 1–109.Google Scholar
- Hannes, F., Sharp, A., Mefford, H., de Ravel, T., Ruivenkamp, C., Breuning, M., et al. (2009). Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. Journal of Medical Genetics, 46(4), 223–232.CrossRefGoogle Scholar
- Hastie, R., & Dawes, R. (2001). Rational choice in an uncertain world: the psychology of judgement and decision making. Thousand Oaks: Sage Publications.Google Scholar
- Hillman, S., Pretlove, S., Coomarasamy, A., McMullan, D., Davison, E., Maher, E., et al. (2011). Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound in Obstetrics & Gynecology, 37(1), 6–14.CrossRefGoogle Scholar
- Nunnally, J. C., & Bernstein, I. H. (1994). Psychometric theory. New York: McGraw-Hill.Google Scholar