Top

Published in:

01-02-2010 | Original Research

“Testing Times, Challenging Choices”: An Australian Study of Prenatal Genetic Counseling

Authors: Jan M. Hodgson, Lynn H. Gillam, Margaret A. Sahhar, Sylvia A. Metcalfe

Published in: Journal of Genetic Counseling | Issue 1/2010

Abstract

In many countries pregnant women deemed to be at increased risk for fetal anomaly following a screening test may attend a genetic counseling session to receive information and support in decision-making about subsequent diagnostic testing. This paper presents findings from an Australian study that explored 21 prenatal genetic counseling sessions conducted by five different genetic counselors. All were attended by pregnant women who had received an increased risk result from a maternal serum screening (MSS) test and who were offered a diagnostic test. Qualitative methods were used to analyze the content and structure of sessions and explore the counseling interactions. Findings from this cohort demonstrate that, within these prenatal genetic counseling sessions, counselor dialogue predominated. Overall the sessions were characterized by: a) an emphasis on information-giving b) a lack of dialogue about relevant sensitive topics such as disability and abortion. Arguably, this resulted in missed opportunities for client deliberation and informed decision-making. These findings have implications for the training and practice of genetic counselors and all healthcare professionals who communicate with women about prenatal testing.

Al-Jader, L. N., Parry-Langdon, N., & Smith, R. J. (2000). Survey of attitudes of pregnant women towards Down syndrome screening. Prenatal Diagnosis, 20(1), 23–29.CrossRefPubMed

Brown, P., & Levinson, S. (1987). Politeness. Cambridge: Cambridge University Press.

Bryant, L., Murray, J., Green, J. M., Hewison, J., Sehmi, I., & Ellis, A. (2001). Descriptive information about Down syndrome: a content analysis of serum screening leaflets. Prenatal Diagnosis, 21, 1057–1063.CrossRefPubMed

Burke, B. M., & Kolker, A. (1994). Variation in content in prenatal genetic counseling interviews. Journal of Genetic Counseling, 3(1), 23–38.CrossRef

Cameron, D. (2001). Working with spoken discourse. London: Sage.

Carroll, J. C., Brown, J. B., Reid, A. J., & Pugh, P. (2000). Women’s experience of maternal serum screening. Can Fam Physician, 46, 614–620.PubMed

Dunne, C., & Warren, C. (1998). Lethal autonomy: the malfunction of the informed consent mechanism within the context of prenatal diagnosis of genetic variants. Issues Law Med, 14(2), 165–202.PubMed

Evans, M. I., & Wapner, R. J. (2005). Invasive prenatal diagnostic procedures 2005. Seminars in Perinatology, 29(4), 215–218.CrossRefPubMed

Fuchs, K. M., & Peipert, J. F. (2005). First trimester Down syndrome screening: public health implications. Seminars in Perinatology, 29(4), 267–271.CrossRefPubMed

Gates, E. A. (2004). Communicating risk in prenatal genetic testing. Journal of Midwifery & Women’s Health, 49(3), 220–227.

Goldworth, A. (1999). Informed consent in the genetic age. Cambridge Quarterly of Healthcare Ethics, 8, 393–400.CrossRefPubMed

Green, J., Hewison, J., Bekker, H. L., Bryant, L., & Cuckle, H. (2004). Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technology Assessment, 8(33).

Green, J., & Statham, H. (1996). Psychosocial aspects of prenatal screening and diagnosis. In T. Marteau & M. Richards (Eds.), the troubled helix: Social and psychological implications of the new human genetics. Cambridge: Cambridge University Press.

Hallowell, N., Statham, H., Murton, F., Green, J., & Richards, M. (1997). “Talking about chance”: the presentation of risk information during genetic counseling for breast and ovarian cancer. Journal of Genetic Counseling, 6(3), 269–286.CrossRef

Hodgson, J., & Spriggs, M. (2005). A practical account of autonomy: why genetic counseling is especially well suited to the facilitation of informed autonomous decision making. Journal of Genetic Counseling, 14(2), 89–97.CrossRefPubMed

Jaques, A., Sheffield, J. J., & Halliday, J. L. (2005). Informed choice in women attending private clinics to undergo first-trimester screening for Down syndrome. Prenatal Diagnosis, 25(8), 656–664.CrossRefPubMed

Karp, L. (1983). The terrible question. American Journal of Medical Genetics, 14(1), 1–4.CrossRef

Kessler, S. (1979). The genetic counseling session. In S. Kessler (Ed.), Genetic counseling: Psychological dimensions (pp. 65–105). New York: Academic.

Kessler, S. (1997). Psychological aspects of genetic counseling. X. Advanced counseling techniques. Journal of Genetic Counseling, 6(4), 379–391.CrossRef

Marteau, T. M., Dormandy, E., & Michie, S. (2001). A measure of informed choice. Health Expect, 4(2), 99–108.CrossRefPubMed

Marteau, T. M., Johnston, M., Plenicar, M., Shaw, R. W., & Slack, J. (1988). Development of a self-administered questionnaire to measure women’s knowledge of prenatal screening and diagnostic tests. J Psychosom Res, 32(4–5), 403–408.CrossRefPubMed

Matloff, E. (1994). Practice variability in prenatal genetic counseling. Journal of Genetic Counseling, 3(3), 215–231.CrossRef

McCarthy Veach, P., LeRoy, B. S., & Bartels, D. (2003). Facilitating the genetic counseling process: A practice manual. New York: Springer-Verlag.

Meiser, B., Irle, J., Lobb, E., & Barlow-Stewart, K. (2008). Assessment of the content and process of genetic counseling: a critical review of empirical studies. J Genet Couns, 17(5), 434–451.CrossRefPubMed

Mitchell, L. M. (2004). Womens experiences of unexpected ultrasound findings. Journal of Midwifery & Women’s Health, 49(3), 228–234.

Moreira, C., Muggli, E., & Halliday, J. (2008). Report on prenatal diagnostic testing in Victoria 2007: The Murdoch Childrens Research Institute, Victorian Perinatal Data Collection Unit and The Consultative Council on Obstetric and Paediatric Mortality and Morbidity.

O’Connor, A., & O’Brien-Pallas, L. (1989). Decisional conflict. In G. McFarland & E. McFarlane (Eds.), Nursing diagnosis and intervention: Planning for patient care (pp. 486–496). St Louis: Mosby.

Rapp, R. (1999). Testing women, testing the fetus: The social impact of amniocentesis in America. New York: Routledge.

Rice, P. L., & Ezzy, D. (1999). Qualitative research methods: a health focus: Oxford University Press.

Rothman, B. K. (1986). The tentative pregnancy: Prenatal diagnosis and the future of motherhood. New York: Viking.

Sahhar, M. A., Young, M.-A., Sheffield, L. J., & Aitken, M. (2005). Educating genetic counselors in Australia: developing an international perspective. Journal of Genetic Counseling, 14(4), 283–294.CrossRefPubMed

Smith, D. K., Shaw, R. W., & Marteau, T. M. (1994). Informed consent to undergo serum screening for Down’s syndrome: the gap between policy and practice. British Medical Journal, 309(6957), 776.PubMed

Tsianakas, V., & Liamputtong, P. (2002). Prenatal testing: the perceptions and experiences of Muslim women in Australia. Journal of Reproductive and Infant Psychology, 20(1), 7.CrossRefPubMed

Tymstra, T. (1989). The imperative character of medical technology and the meaning of “anticipated decision regret”. Int J Technol Assess Health Care, 5(2), 207–213.CrossRefPubMed

Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press.

Weinans, M. J., Kooij, L., Muller, M. A., Bilardo, K. M., Van Lith, J. M., & Tymstra, T. (2004). A comparison of the impact of screen-positive results obtained from and biochemical screening for Down syndrome iultrasound n the first trimester: a pilot study. Prenatal Diagnosis, 24(5), 347–351.CrossRefPubMed

Woofitt, R. (2005). Conversation analysis and discourse analysis. London: Sage.

Title: “Testing Times, Challenging Choices”: An Australian Study of Prenatal Genetic Counseling
Authors: Jan M. Hodgson
Lynn H. Gillam
Margaret A. Sahhar
Sylvia A. Metcalfe
Publication date: 01-02-2010
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 1/2010
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-009-9248-6

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

“Testing Times, Challenging Choices”: An Australian Study of Prenatal Genetic Counseling

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2010

“Stepping Out to Step In”

Perceptions of High-Risk Care and Barriers to Care Among Women at Risk for Hereditary Breast and Ovarian Cancer following Genetic Counseling in the Community Setting

Billing for Medical Genetics and Genetic Counseling Services: A National Survey

The Genome Book: A Must-Have Guide to Your DNA for Maximum Health by April Lynch with Vickie Venne MS CGC. Sunrise River Press, North Branch, MN 55056, April 2009, 239 pp., $14.95

Grandmothers as Gems of Genetic Wisdom: Exploring South African Traditional Beliefs About the Causes of Childhood Genetic Disorders

Primary Care Providers’ Responses to Patient-Generated Family History