Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1130–1147 | Cite as

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray

  • Jessica Baker
  • Cheryl Shuman
  • David Chitayat
  • Syed Wasim
  • Nan Okun
  • Johannes Keunen
  • Renee Hofstedter
  • Rachel Silver
Original Research


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.


Prenatal 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.

Animal Studies

No animal studies were carried out by the authors for this article.


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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  • Jessica Baker
    • 1
    • 2
  • Cheryl Shuman
    • 1
    • 2
  • David Chitayat
    • 1
    • 2
    • 3
  • Syed Wasim
    • 4
  • Nan Okun
    • 3
  • Johannes Keunen
    • 3
  • Renee Hofstedter
    • 3
  • Rachel Silver
    • 1
    • 3
  1. 1.Department of Molecular GeneticsUniversity of TorontoTorontoCanada
  2. 2.Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada
  3. 3.The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai HospitalUniversity of TorontoTorontoCanada
  4. 4.Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai HospitalUniversity of TorontoTorontoCanada

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