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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

Abstract

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.

Keywords

Prenatal Microarray Informed decision-making Deliberation Knowledge Value consistency Genetic counseling 

Notes

Acknowledgements

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.

References

  1. 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
  2. Armengol, L., Nevado, J., Serra-Juhé, C., Plaja, A., Mediano, C., García-Santiago, F., et al. (2012). Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Human Genetics, 131(3), 513–523.CrossRefPubMedGoogle Scholar
  3. Bakhireva, L., Young, B., Dalen, J., Phelan, S., & Rayburn, W. (2011). Patient utilization of information sources about safety of medications during pregnancy. Journal of Reproductive Medicine, 56(7–8), 339–343.PubMedGoogle Scholar
  4. Bekker, H., Hewison, J., & Thornton, J. (2004). Applying decision analysis to facilitate informed decision making about prenatal diagnosis for down syndrome: a randomised controlled trial. Prenatal Diagnosis, 24(4), 265–275.CrossRefPubMedGoogle Scholar
  5. Ben-Shachar, S., Lanpher, B., German, J., Qasaymeh, M., Potocki, L., Nagamani, S., et al. (2009). Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Journal of Medical Genetics, 46(6), 382–388.CrossRefPubMedPubMedCentralGoogle Scholar
  6. Bernhardt, B., Soucier, D., Hanson, K., Savage, M., Jackson, L., & Wapner, R. (2013). Women’s experiences receiving abnormal prenatal chromosomal microarray testing results. Genetics in Medicine, 15(2), 139–145.CrossRefPubMedGoogle Scholar
  7. Breman, A., Pursley, A., Hixson, P., Bi, W., Ward, P., Bacino, C., et al. (2012). Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenatal Diagnosis, 32(4), 351–361.CrossRefPubMedGoogle Scholar
  8. Briss, P., Rimer, B., Reilley, B., Coates, R., Lee, N., Mullen, P., et al. (2004). Promoting informed decisions about cancer screening in communities and healthcare systems. American Journal of Preventive Medicine, 26(1), 67–80.CrossRefPubMedGoogle Scholar
  9. Charmaz, K. (2006). Constructing grounded theory: a practical guide through qualitative analysis. Los Angeles: Sage.Google Scholar
  10. 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
  11. Dahl, K., Hvidman, L., Jorgensen, F., & Kesmodel, U. (2011). Knowledge of prenatal screening and psychological management of test decisions. Ultrasound in Obstetrics & Gynecology, 38(2), 152–157.CrossRefGoogle Scholar
  12. Deak, K., Horn, S., & Rehder, C. (2011). The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. Clinics in Laboratory Medicine, 31(4), 543–564.CrossRefPubMedGoogle Scholar
  13. Duncan, A., Langlois, S., Committee, S. G, & Committee, C. P. (2011). Use of array genomic hybridization technology in prenatal diagnosis in Canada. Journal of Obstetrics & Gynaecology Canada, 33(12), 1256–1259.CrossRefGoogle Scholar
  14. 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.CrossRefPubMedGoogle Scholar
  15. 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
  16. 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.CrossRefPubMedGoogle Scholar
  17. Hastie, R., & Dawes, R. (2001). Rational choice in an uncertain world: the psychology of judgement and decision making. Thousand Oaks: Sage Publications.Google Scholar
  18. 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
  19. Hillman, S., Skelton, J., Quinlan-Jones, E., Wilson, A., & Kilby, M. (2013). “If it helps...” the use of microarray technology in prenatal testing: patient and partners reflections. American Journal of Medical Genetics. Part A, 161A(7), 1619–1627.CrossRefPubMedGoogle Scholar
  20. Jacobson, C., & Barter, R. (1967). Intrauterine diagnosis and management of genetic defects. American Journal of Obstetrics & Gynecology, 99(6), 796–807.CrossRefGoogle Scholar
  21. Kleinveld, J., Ten Kate, L., van den Berg, M., van Vugt, J., & Timmermans, D. (2009). Does informed decision making influence psychological outcomes after receiving a positive screening outcome? Prenatal Diagnosis, 29(3), 271–273.CrossRefPubMedGoogle Scholar
  22. Kohut, R., Dewey, D., & Love, E. (2002). Women’s knowledge of prenatal ultrasound and informed choice. Journal of Genetic Counseling, 11(4), 265–276.CrossRefPubMedGoogle Scholar
  23. Korenromp, M., Christiaens, G., van den Bout, J., Mulder, E., Hunfeld, J., Bilardo, C., et al. (2005). Long-term psychological consequences of pregnancy termination for fetal abnormality: a cross-sectional study. Prenatal Diagnosis, 25(3), 253–260.CrossRefPubMedGoogle Scholar
  24. Korenromp, M., Page-Christiaens, G., van den Bout, J., Mulder, E., & Visser, G. (2009). Adjustment to termination of pregnancy for fetal anomaly: a longitudinal study in women at 4, 8, and 16 months. American Journal of Obstetrics & Gynecology, 201(2), 160.e1–160.e7.CrossRefGoogle Scholar
  25. Marteau, T., Dormandy, E., & Michie, S. (2001). A measure of informed choice. Health Expectations, 4(2), 99–108.CrossRefPubMedPubMedCentralGoogle Scholar
  26. McGillivray, G., Rosenfeld, J., McKinlay, G. R., & Gillam, L. (2012). Genetic counseling and ethical issues with chromosome microarray analysis in prenatal testing. Prenatal Diagnosis, 32(4), 389–395.CrossRefPubMedGoogle Scholar
  27. Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., et al. (2008). Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine, 359(16), 1685–1699.CrossRefPubMedPubMedCentralGoogle Scholar
  28. Michie, S., Dormandy, E., & Marteau, T. (2002). The multi-dimensional measure of informed choice: a validation study. Patient Education and Counseling, 48(1), 87–91.CrossRefPubMedGoogle Scholar
  29. Norton, M. E., & Rink, B. D. (2016). Changing indications for invasive testing in an era of improved screening. Seminars in Perinatology, 40, 55–66.CrossRefGoogle Scholar
  30. Nunnally, J. C., & Bernstein, I. H. (1994). Psychometric theory. New York: McGraw-Hill.Google Scholar
  31. O'Connor, A. (1995). Validation of a decisional conflict scale. Medical Decision Making, 15(1), 25–30.CrossRefPubMedGoogle Scholar
  32. Rickman, L., Fiegler, H., Shaw Smith, C., Nash, R., Cirigliano, V., Voglino, G., et al. (2006). Prenatal detection of unbalanced chromosomal rearrangements by array CGH. Journal of Medical Genetics, 43(4), 353–361.CrossRefPubMedGoogle Scholar
  33. Rimer, B., Briss, P., Zeller, P., Chan, E., & Woolf, S. (2004). Informed decision making: what is its role in cancer screening? Cancer, 101(5 Suppl), 1214–1228.CrossRefPubMedGoogle Scholar
  34. Roa, B., Pulliam, J., Eng, C., & Cheung, S. (2005). Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis. Expert Review of Molecular Diagnostics, 5(6), 883–892.CrossRefPubMedGoogle Scholar
  35. Robinson, J., Slashinski, M., Wang, T., Hilsenbeck, S., & McGuire, A. (2013). Participants’ recall and understanding of genomic research and large-scale data sharing. Journal of Empirical Research on Human Research Ethics, 8(4), 42–52.CrossRefPubMedPubMedCentralGoogle Scholar
  36. Sahoo, T., Cheung, S., Ward, P., Darilek, S., Patel, A., del Gaudio, D., et al. (2006). Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genetics in Medicine, 8(11), 719–727.CrossRefPubMedGoogle Scholar
  37. Saucier, J., Johnston, D., Wicklund, C., Robbins-Furman, P., Hecht, J., & Monga, M. (2005). Racial-ethnic differences in genetic amniocentesis uptake. Journal of Genetic Counseling, 14(3), 189–195.CrossRefPubMedGoogle Scholar
  38. Shaffer, L., Dabell, M., Fisher, A., Coppinger, J., Bandholz, A., Ellison, J., et al. (2012). Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenatal Diagnosis, 32(10), 976–985.CrossRefPubMedPubMedCentralGoogle Scholar
  39. Sharp, A., Mefford, H., Li, K., Skinner, C., Stevenson, R., Schroer, R., et al. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics, 40(3), 322–328.CrossRefPubMedPubMedCentralGoogle Scholar
  40. Slovic, P., & Lichtensteln, S. (1971). Comparison of Bayesian and regression approaches to the study of information processing in judgment. Organizational Behavior and Human Performance, 6, 649–744.CrossRefGoogle Scholar
  41. Stark, Z., Gillam, L., Walker, S., & McGillivray, G. (2013). Ethical controversies in prenatal microarray. Current Opinion in Obstetrics & Gynecology, 25(2), 133–137.CrossRefGoogle Scholar
  42. Summers, A. (1994). Informed choice in prenatal screening. Canadian Family Physician, 40, 1688–1691.PubMedPubMedCentralGoogle Scholar
  43. The American College of Obstetricians and Gynecologists Committee on Genetics. (2013). Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstetrics & Gynecology, 122(6), 1374–1377.CrossRefGoogle Scholar
  44. Todd, P., & Gigerenzer, G. (2000). Précis of simple heuristics that make us smart. The Behavioral and Brain Sciences, 23(5), 727–741.CrossRefPubMedGoogle Scholar
  45. Ullmann, R., Turner, G., Kirchhoff, M., Chen, W., Tonge, B., Rosenberg, C., et al. (2007). Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation, 28(7), 674–682.CrossRefPubMedGoogle Scholar
  46. van den Berg, M., Timmermans, D. R., Ten Kate, L. P., van Vugt, J. M., & van der Wal, G. (2005). Are pregnant women making informed choices about prenatal screening? Genetics in Medicine, 7(5), 332–338.CrossRefPubMedGoogle Scholar
  47. van den Berg, M., Timmermans, D. R., Ten Kate, L. P., van Vugt, J. M., & van der Wal, G. (2006). Informed decision making in the context of prenatal screening. Patient Education and Counseling, 63, 110–117.  https://doi.org/10.1016/j.pec.2005.09.007.CrossRefPubMedGoogle Scholar
  48. Van den Veyver, I., Patel, A., Shaw, C., Pursley, A., Kang, S., Simovich, M., et al. (2009). Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenatal Diagnosis, 29(1), 29–39.CrossRefPubMedPubMedCentralGoogle Scholar
  49. Wapner, R., Martin, C., Levy, B., Ballif, B., Eng, C., Zachary, J., et al. (2012). Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England Journal of Medicine, 367(23), 2175–2184.CrossRefPubMedPubMedCentralGoogle Scholar
  50. Zuffardi, O., Vetro, A., Brady, P., & Vermeesch, J. (2011). Array technology in prenatal diagnosis. Seminars in Fetal & Neonatal Medicine, 16(2), 94–98.CrossRefGoogle Scholar

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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