Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?
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.
KeywordsAdvaced-genomic-tests Pregnancy Genetic counselors Knowledge Chromosomal-microarray-analysis (CMA)
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.
This article does not contain any studies with animals performed by any of the authors.
- 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.CrossRefPubMedPubMedCentralGoogle Scholar
- 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.CrossRefPubMedGoogle Scholar
- Glaser, B. G., & Strauss, A. L. (1967). Grounded theory: the discovery of grounded theory. New York: de Gruyter.Google Scholar
- 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
- 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.CrossRefPubMedPubMedCentralGoogle Scholar
- 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.CrossRefPubMedGoogle Scholar