Top

Published in:

Open Access 01-02-2018 | Original Research

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

Authors: S. L. van der Steen, E. M. Bunnik, M. G. Polak, K. E. M. Diderich, J. Verhagen-Visser, L. C. P. Govaerts, M. Joosten, M. F. C. M. Knapen, A. T. J. I. Go, D. Van Opstal, M. I. Srebniak, R. J. H. Galjaard, A. Tibben, S. R. Riedijk

Published in: Journal of Genetic Counseling | Issue 1/2018

Abstract

Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study. Choices based on sufficient knowledge and consistent with attitude were considered informed. Sixty-two percent of the women made an adequately informed choice, based on sufficient knowledge and attitude-consistent with their choice of microarray resolution. Women who made an informed choice, opted for 0.5 Mb array resolution more often. There were no differences between women making adequately informed or less informed choices regarding level of experienced anxiety or doubts. Over time on T0 and T1, anxiety and doubts significantly decreased. While previous studies demonstrated that knowledge is an important component in informed decision-making, this study underlines that a consistent attitude might be equally important for decision-making. We advocate more focus on attitude-consistency and deliberation as compared to only a strong focus on knowledge.

Bunnik, E. M., Janssens, A. C., & Schermer, M. H. (2013). A tiered-layered-staged model for informed consent in personal genome testing. European Journal of Human Genetics, 21, 596–601.CrossRefPubMed

Dahl, K., Hvidman, L., Jorgensen, F. S., & Kesmodel, U. S. (2011). Knowledge of prenatal screening and psychological management of test decisions. Ultrasound in Obstetrics & Gynecology, 38(2), 152–157.

de Jong, A., Dondorp, W. J., & De Wert, G. M. (2009). The scope of prenatal diagnostic testing for chromosomal aberrations: Broad or narrow? Ethical considerations on the choice of tests. Ned Tijdschr Geneeskd, 153, A1060.PubMed

de Jong, A., Dondorp, W. J., Krumeich, A., Boonekamp, J., van Lith, J. M., & de Wert, G. M. (2013). The scope of prenatal diagnosis for women at increased risk for aneuploidies: Views and preferences of professionals and potential users. Journal of Community Genetics, 4, 125–135.CrossRefPubMed

de Jong, A., Dondorp, W. J., Macville, M. V. E., de Die-Smulders, C. E. M., van Lith, J. M. M., & de Wert, G. M. W. R. (2014). Microarrays as a diagnostic tool in prenatal screening strategies: Ethical reflection. Human Genetics, 133(2), 163–172. doi:10.1007/s00439-013-1365-5.

Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., et al. (2015). Non-invasive prenatal testing for aneuploidy and beyond: Challenges of responsible innovation in prenatal screening. European Journal of Human Genetics, 23(11), 1438–1450.

Dondorp, W., Sikkema-Raddatz, B., de Die-Smulders, C., & de Wert, G. (2012). Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent. Human Mutation, 33, 916–922.CrossRefPubMed

Kimball, B. C., Nowakowski, K. E., Maschke, K. J., & McCormick, J. B. (2014). Genomic data in the electronic medical record: Perspectives from a biobank community advisory board. Journal of Empirical Research on Human Research Ethics, 9, 16–24.CrossRefPubMed

Kleinveld, J. H., Ten Kate, L. P., van den Berg, M., van Vugt, J. M., & Timmermans, D. R. (2009). Does informed decision making influence psychological outcomes after receiving a positive screening outcome? Prenatal Diagnosis, 29, 271–273.CrossRefPubMed

Manson, N., & O'Neill, O. (2007). Rethinking informed consent in bioethics. Cambridge: Cambridge University Press. doi:10.1017/CBO9780511814600.

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

McCoyd, J. L. (2013). Preparation for prenatal decision-making: A baseline of knowledge and reflection in women participating in prenatal screening. Journal of Psychosomatic Obstetrics and Gynaecology, 34, 3–8.CrossRefPubMed

McGillivray, G., Rosenfeld, J. A., McKinlay Gardner, R. J., & Gillam, L. H. (2012). Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenatal Diagnosis, 32, 389–395.CrossRefPubMed

Michie, S., Dormandy, E., & Marteau, T. M. (2002). The multi-dimensional measure of informed choice: A validation study. Patient Education and Counseling, 48, 87–91.CrossRefPubMed

Michie, S., Dormandy, E., & Marteau, T. M. (2003). Informed choice: understanding knowledge in the context of screening uptake. Patient Education and Counseling, 50(3), 247–253.

Muller, C., & Cameron, L. D. (2014). Trait anxiety, information modality, and responses to communications about prenatal genetic testing. Journal of Behavioral Medicine, 37, 988–999.CrossRefPubMed

Riedijk, S. R., Diderich, K. E. M., van der Steen, S. L., Govaerts, L. C. P., Joosten, A. M. S., Knapen, M. F. C. M., De Vries, F. A. T., Van Opstal, D., Tibben, A., & Galjaard, R. J. H. (2014). The psychological challenges of replacing conventional karyotyping with genomic SNP Array analysis in prenatal testing. Journal of Clinical Medicine, 3, 713–723.CrossRefPubMedPubMedCentral

Rowe, H. J., Fisher, J. R., & Quinlivan, J. A. (2006). Are pregnant Australian women well informed about prenatal genetic screening? A systematic investigation using the multidimensional measure of informed choice. The Australian & New Zealand Journal of Obstetrics & Gynaecology, 46, 433–439.CrossRef

Schoonen, H. M., van Agt, H. M., Essink-Bot, M. L., Wildschut, H. I., Steegers, E. A., & de Koning, H. J. (2011). Informed decision-making in prenatal screening for Down's syndrome: What knowledge is relevant? Patient Education and Counseling, 84(2), 265–270.

Schoonen, M., Wildschut, H., Essink-Bot, M. L., Peters, I., Steegers, E., & de Koning, H. (2012). The provision of information and informed decision-making on prenatal screening for down syndrome: A questionnaire- and register-based survey in a non-selected population. Patient Education and Counseling, 87, 351–359.CrossRefPubMed

Srebniak, M., Boter, M., Oudesluijs, G., Joosten, M., Govaerts, L., Van Opstal, D., & Galjaard, R. J. (2011). Application of SNP array for rapid prenatal diagnosis: Implementation, genetic counselling and diagnostic flow. European Journal of Human Genetics, 19, 1230–1237.CrossRefPubMedPubMedCentral

Srebniak, M. I., Diderich, K. E., Govaerts, L. C., Joosten, M., Riedijk, S., Galjaard, R. J., & Van Opstal, D. (2014). Types of array findings detectable in cytogenetic diagnosis: A proposal for a generic classification. European Journal of Human Genetics, 22, 856–858.CrossRefPubMed

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.CrossRefPubMed

van der Bij, A. K., de Weerd, S., Cikot, R. J., Steegers, E. A., & Braspenning, J. C. (2003). Validation of the dutch short form of the state scale of the Spielberger state-trait anxiety inventory: Considerations for usage in screening outcomes. Community Genetics, 6, 84–87.PubMed

van der Steen, S. L., Diderich, K. E., Riedijk, S. R., Verhagen-Visser, J., Govaerts, L. C., Joosten, M., et al. (2014). Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing. Clinical Genetics, 88(1), 25–31. doi:10.1111/.12479.

van der Steen, S. L., Riedijk, S. R., Verhagen-Visser, J., Govaerts, L. C., Srebniak, M. I., Van Opstal, D., Joosten, M., Knapen, M. F., Tibben, A., Diderich, K. E., et al. (2016). The psychological impact of prenatal diagnosis and disclosure of susceptibility loci: First impressions of Parents' experiences. Journal of Genetic Counseling, 25, 1227–1234.CrossRefPubMedPubMedCentral

Van Opstal, D., de Vries, F., Govaerts, L., Boter, M., Lont, D., van Veen, S., Joosten, M., Diderich, K., Galjaard, R. J., & Srebniak, M. I. (2015). Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies. Human Mutation, 36, 319–326.CrossRefPubMed

van Schendel, R. V., Dondorp, W. J., Timmermans, D. R., van Hugte, E. J., de Boer, A., Pajkrt, E., et al. (2015). NIPT-based screening for Down syndrome and beyond: What do pregnant women think? Prenatal Diagnosis, 35(6), 598–604.

Vlemmix, F., Warendorf, J. K., Rosman, A. N., Kok, M., Mol, B. W., Morris, J. M., & Nassar, N. (2013). Decision aids to improve informed decision-making in pregnancy care: A systematic review. BJOG, 120, 257–266.CrossRefPubMed

Vos, J., Menko, F. H., Oosterwijk, J. C., van Asperen, C. J., Stiggelbout, A. M., & Tibben, A. (2013). Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: An explorative assessment. Psychooncology, 22, 1167–1176.CrossRefPubMed

Title: Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?
Authors: S. L. van der Steen
E. M. Bunnik
M. G. Polak
K. E. M. Diderich
J. Verhagen-Visser
L. C. P. Govaerts
M. Joosten
M. F. C. M. Knapen
A. T. J. I. Go
D. Van Opstal
M. I. Srebniak
R. J. H. Galjaard
A. Tibben
S. R. Riedijk
Publication date: 01-02-2018
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 1/2018
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-017-0124-5

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

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 1/2018

Counseling Close to Home: Genetic Counselors’ Experiences with their own Family Members

Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy

Thank You to Reviewers

Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy

Invasive Prenatal Diagnostic Testing Recommendations are Influenced by Maternal Age, Statistical Misconception and Perceived Liability

Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy