Advertisement

Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1167–1174 | Cite as

Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?

  • Shiri Shkedi-Rafid
  • Yael Hashiloni-Dolev
Original Research

Abstract

Advanced genomic tests in pregnancy, such as chromosomal microarray analysis (CMA), provide higher detection rates yet often produce probabilistic and uncertain information. This study aimed to understand how the most knowledgeable patients, i.e., pregnant genetic counselors, act in their own pregnancies, thereby gaining insight into the impact of patients’ knowledge on the diagnostic process. Seventeen interviews were conducted with Israeli genetic counselors, either pregnant or up to 2 years post-pregnancy. A third of the participants chose not to have CMA while two thirds underwent it despite no detected abnormalities. Although knowledge was the main motivation, counselors varied in the desired degree of information. Two thirds of those opting for CMA wished to have all findings identified whereas roughly one third asked for a targeted platform seeking to avoid uncertain results. Counselors were not quick to adopt new tests such as whole-exome sequencing. Being knowledgeable was described as promoting a sense of control yet also being a source of stress and moral dilemmas. While the basic premise of informed consent is crucial, it does not always make things easier for educated patients. Consequently, raising levels of patient knowledge is only a limited step forward in the search for best practice.

Keywords

Advaced-genomic-tests Pregnancy Genetic counselors Knowledge Chromosomal-microarray-analysis (CMA) 

Notes

Compliance with Ethical Standards

Conflict of Interest

Shiri Shkedi-Rafid and Yael Hashiloni-Dolev declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Consent was obtained from all individual participants included in the study. Ethics approval was granted by the Hadassah Medical Center Research Ethics Committee. Reference 0599-17-HMO.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

References

  1. Ahn, J. W., Bint, S., Irving, M. D., Kyle, P. M., Akolekar, R., Mohammed, S. N., et al. (2014). A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings. PeerJ, 2, e354.CrossRefGoogle Scholar
  2. 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.CrossRefGoogle Scholar
  3. American College of Obstetricians and Gynecologists. (2013). Committee on genetics: committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstetrics & Gynecology, 122(6), 1374–1377.CrossRefGoogle Scholar
  4. Armengol, L., Nevado, J., Serra-Juhé, C., Plaja, A., Mediano, C., Garcia-Santiago, F. A., et al. (2012). Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Human Genetics, 131(3), 513–523.CrossRefGoogle Scholar
  5. Bernhardt, B. A., Soucier, D., Hanson, K., Savage, M. S., Jackson, L., & Wapner, R. J. (2013). Women’s experiences receiving abnormal prenatal chromosomal microarray testing results. Genetics in Medicine, 15(2), 139–145.CrossRefGoogle Scholar
  6. Bernhardt, B. A., Kellom, K., Barbarese, A., Faucett, W. A., & Wapner, R. J. (2014). An exploration of genetic counselors’ needs and experiences with prenatal chromosomal microarray testing. Journal of Genetic Counseling, 23(6), 938–947.CrossRefGoogle Scholar
  7. Brady, P. D., Delle Chiaie, B., Christenhusz, G., Dierick, K., Van Den Bogaert, K., Menten, B., et al. (2014). A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors. Genetics in Medicine, 16(6), 469–476.CrossRefGoogle Scholar
  8. Cavalli, P., Cavallari, U., & Novelli, A. (2012). Array CGH in routine prenatal diagnosis practice. Prenatal Diagnosis, 32(7), 708–709 author reply 711-712.CrossRefGoogle Scholar
  9. Drury, S., Williams, H., Trump, N., GOSgene, Lench, N., Scott, R. H., et al. (2015). Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. Prenatal Diagnosis, 35(10), 1010–1017.CrossRefGoogle Scholar
  10. Glaser, B. G., & Strauss, A. L. (1967). Grounded theory: the discovery of grounded theory. New York: de Gruyter.Google Scholar
  11. Hashiloni-Dolev, Y. (2007). A life (un)worthy of living: reproductive genetics in Israel and Germany. Series: International Library of Ethics, Law and the New Medicine (Vol. 34, p. 195). Dordrecht: Springer.Google Scholar
  12. Hillman, S. C., Skelton, J., Quinlan-Jones, E., Wilson, A., & Kilby, M. D. (2013a). “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.CrossRefGoogle Scholar
  13. Hillman, S., McMullan, D., Hall, G., Togneri, F. S., James, N., & Maher, E. J. (2013b). Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound in Obstetrics & Gynecology, 41(6), 610–620.CrossRefGoogle Scholar
  14. Jaques, A. M., Sheffield, L. 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.CrossRefGoogle Scholar
  15. Kalynchuk, E. J., Althouse, A., Parker, L. S., Saller Jr., D. N., & Rajkovic, A. (2015). Prenatal whole-exome sequencing: parental attitudes. Prenatal Diagnosis, 35(10), 1030–1036.CrossRefGoogle Scholar
  16. Mackie, F. L., Carss, K. J., Hillman, S. C., Hurles, M. E., & Killy, M. D. (2014). Exome sequencing in fetuses with structural malformations. Journal of Clinical Medicine, 3(3), 747–762.CrossRefGoogle Scholar
  17. 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(4), 389–395.CrossRefGoogle Scholar
  18. Mikhaelian, M., Veach, P. M., MacFarlane, I., LeRoy, B. S., & Bower, M. (2013). Prenatal chromosomal microarray analysis: a survey of prenatal genetic counselors’ experiences and attitudes. Prenatal Diagnosis, 33(4), 371–377.PubMedGoogle Scholar
  19. Pangalos, C., Hagnefelt, B., Lilakos, K., & Konialis, C. (2016). First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. PeerJ, 4, e1955.CrossRefGoogle Scholar
  20. Prainsack, B., & Firestine, O. (2006). Science for survival: biotechnology regulation in Israel. Science and Public Policy, 33(1), 33–46.CrossRefGoogle Scholar
  21. Rosenfeld, J. A., Coe, B. P., Eichler, E. E., Cuckle, H., & Shafer, L. G. (2012). Estimates of penetrance for recurrent pathogenic copy-number variations. Genetics in Medicine, 15(6), 478–481.CrossRefGoogle Scholar
  22. Shkedi-Rafid, S., Fenwick, A., Dheensa, S., Wellesley, D., & Lucassen, A. M. (2016). What results to disclose, when, and who decides? Healthcare professionals’ views on prenatal chromosomal microarray analysis. Prenatal Diagnosis, 36(3), 252–259.CrossRefGoogle Scholar
  23. Sukenik-Halevy, R., Ludman, M. D., Ben-Shachar, S., & RaasRothschild, A. (2016). The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing. Genetics in Medicine, 18(4), 372–377.CrossRefGoogle Scholar
  24. Thomson, R., Edwards, A., & Grey, J. (2005). Risk communication in the clinical consultation. Clinical Medicine (London, England), 5(5), 465–469.CrossRefGoogle Scholar
  25. van der Steen, S. L., Diderich, K. E., Riedijk, S. R., Vernagen-Visser, J., Govaerts, L. C., Joosten, M., et al. (2015). Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing. Clinal Genetics, 88(1), 25–31.CrossRefGoogle Scholar
  26. Vanakker, O., Vilain, C., Janssens, K., Van der Aa, N., Smith, G., Bandelier, C., et al. (2014). Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. European Journal of Medical Genetics, 57(4), 151–156.CrossRefGoogle Scholar
  27. Walser, S. A., Werner-Lin, A., Russell, A., Wapner, R. J., & Bernhardt, B. A. (2016). “Something extra on chromosome 5”: parents’ understanding of positive prenatal chromosomal microarray analysis (CMA) results. Journal of Genetic Counseling, 25(5), 1116–1126.CrossRefGoogle Scholar
  28. Werner-Lin, A., Walser, S., Barg, F. K., & Bernhardt, B. A. (2017). “They can’t find anything wrong with him, yet”: mothers’ experiences of parenting an infant with a prenatally diagnosed copy number variant (CNV). American Journal of Medical Genetics Part A, 173(2), 444–451.CrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  1. 1.Department of Genetics and Metabolic DiseasesHadassah Hebrew University Medical CenterJerusalemIsrael
  2. 2.School of Government and SocietyAcademic College of Tel Aviv-YaffoTel Aviv-YaffoIsrael

Personalised recommendations