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01-08-2013 | Scientific Contribution

A new era in prenatal testing: are we prepared?

Author: Dagmar Schmitz

Published in: Medicine, Health Care and Philosophy | Issue 3/2013

Abstract

Prenatal care and the practice of prenatal genetic testing are about to be changed fundamentally. Due to several ground-breaking technological developments prenatal screening and diagnosis (PND) will soon be offered earlier in gestation, with less procedure-related risks and for a profoundly enlarged variety of targets. In this paper it is argued that the existing normative framework for prenatal screening and diagnosis cannot answer adequately to these new developments. In concentrating on issues of informed consent and the reproductive autonomy of the pregnant women the ethical debate misses problems related to the clinical pathway as a whole and to implicit normative attributions to clinical actions or the function of health care professionals. If, however, ethical debate would focus on the clinical context and on the ends of PND to a larger extent, it would be able to provide a more comprehensive analysis of the ethical challenges especially of the new technologies in order to be more adequately prepared for their implementation.

McGraw-Hill Concise Dictionary of Modern Medicine 2002.

Buchanan, A., D.W. Brock, N. Daniels, and D. Wikler. 2000. From chance to choice. Genetics & Justice. Cambridge, New York: Cambridge University Press.

Chervenak, F.A., and L.B. McCullough. 2003. The fetus as a patient: An essential concept for the ethics of perinatal medicine. American Journal of Perinatology 20(8): 399–404.PubMedCrossRef

Chitty, L.S., C.E. van der Schoot, S. Hahn, and N.D. Avent. 2008. SAFE—the special non-invasive advances in fetal and neonatal evaluation network: aims and achievements. Prenatal Diagnosis 28(2): 83–88.PubMedCrossRef

Chiu, R.W., R. Akolekar, Y.W. Zheng, T.Y. Leung, H. Sun, K.C. Chan, et al. 2011. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. BMJ 342: c7401.PubMedCrossRef

Davidson, R.G. 1972. Prenatal diagnosis of genetic disorders: Trials and tribulations. Clinical Chemistry 18(3): 179–187.PubMed

Deans, Z., and A. Newson. 2011. Should non-invasiveness change informed consent procedures for prenatal diagnosis? Health Care Analysis 19(2): 122–132.PubMedCrossRef

De Jong, A., W.J. Dondorp, C.E. de Die-Smulders, S.G. Frints, and G.M. de Wert. 2010. Non-invasive prenatal testing: ethical issues explored. European Journal of Human Genetics 18(3): 272–277.PubMedCrossRef

De Jong A., W.J. Dondorp, S.G. Frints, C.E. de Die-Smulders, and G.M. de Wert. 2011a. Non-invasive prenatal diagnosis for aneuploidy:toward an integral ethical assessment. Human Reproduction 26(11): 2915–2917.

De Jong, A., W.J. Dondorp, S.G. Frints, C.E. de Die-Smulders, and G.M. de Wert. 2011b. Advances in prenatal screening: The ethical dimension. Nature Reviews Genetics 12: 657–663.

Dworkin, G. 1988. The theory and practice of autonomy. Cambridge: Cambridge University Press.CrossRef

Engelhardt Jr, H.T. 1996. The foundations of bioethics, 2nd ed, 189–238. New York: Oxford University Press.

European Surveillance of Congenital Anomalies (EUROCAT). 2010. Special report: prenatal screening policies in Europe. www.eurocat.ulster.ac.uk. Accessed 6 Jan 2012.

Fan, H.C., Y.J. Blumenfeld, U. Chitkara, L. Hudgins, and S.R. Quake. 2008. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 105(24): 16266–16271.

Fan, H.C., and S.R. Quake. 2010. In principle method for noninvasive determination of the fetal genome. Nature Precedings. doi:10.1038/npre.2010.5373.1.

Federal Centre of Health Education (Bundeszentrale für gesundheitliche Aufklärung, BZgA). 2006. Experience of pregnancy and prenatal diagnosis. Representative survey of pregnant women on the subject of prenatal diagnosis. http://www.bzga.de/?uid=54fef95d6f432e81cd0178d17b77b7d4&id=medien&sid=88&idx=1496. Accessed 2 Oct 2011.

Ferguson-Smith, M.E., M.A. Ferguson-Smith, N.C. Nevine, and A. Stone. 1971. Chromosome analysis before birth and its value in genetic counselling. BMJ 4(5779): 69–74.PubMedCrossRef

Fuchs, M., and D. Lanzerath (Eds). 2004. Prädiktive gentests. “Health Purposes” und Indikationsstellung als Kriterien der Anwendung.

Greely, H.T. 2011. Get ready for the flood of fetal gene screening. Nature 469(7330): 289–291.PubMedCrossRef

Grosse, S.D., and M.J. Khoury. 2006. What is the clinical utility of genetic testing? Genetics in Medicine 8(7): 448–450.PubMedCrossRef

Haker, H. 2008. Ethische Dimensionen in der Pränatalen Diagnostik. In Der Beratungsprozess in der Pränatalen Diagnostik, ed. D.C. Hürlimann, R. Baumann-Hölzle, and H. Müller, 43–68. Bern: Peter Lang.

Hofmann, B. 2003. Medicine as techne—A perspective from antiquity. Journal of Medicine and Philosophy 28(4): 403–425.PubMedCrossRef

Lanzerath, D. 2000. Krankheit und ärztliches Handeln. München: Alber.

Lo, Y.M., K.C. Chan, H. Sun, E.Z. Chen, P. Jiang, F.M. Lun, et al. 2010. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Science Translational Medicine 2(61): 61ra91.PubMedCrossRef

Lo, Y.M., N.B. Tsui, R.W. Chiu, T.K. Lau, T.N. Leung, M.M. Heung, et al. 2007. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nature Medicine 13(2): 218–223.PubMedCrossRef

Manson, N.C., and O. O’Neill. 2007. Rethinking informed consent in bioethics. Cambridge: Cambridge University Press.CrossRef

Newson, A.J. 2008. Ethical aspects arising from non-invasive fetal diagnosis. Seminars in Fetal and Neonatal Medicine 13(2): 103–108.PubMedCrossRef

O’Neill, O. 2002. Autonomy and trust in bioethics. Cambridge, New York: Cambridge University Press.CrossRef

O’Neill, O. 2003. Some limits of informed consent. Journal of Medical Ethics 29(1): 4–7.PubMedCrossRef

Pippin, R.B. 1996. Medical practice and social authority. Journal of Medicine and Philosophy 21(4): 417–437.PubMedCrossRef

Savulescu, J. 2001. Procreative beneficence: Why we should select the best children. Bioethics 15(5–6): 413–426.PubMedCrossRef

Schmitz, D., C. Netzer, and W. Henn. 2009. An offer you can’t refuse? Ethical implications of non-invasive prenatal diagnosis. Nature Reviews Genetics 10: 515.PubMedCrossRef

Wiesemann, C. 2006. Von der Verantwortung, ein Kind zu bekommen. Eine Ethik der Elternschaft. München: C.H. Beck.

Wright, C. 2009. Cell-free fetal nucleic acids for non-invasive prenatal diagnosis. Report of the UK expert working group. PHG Foundation.

Title: A new era in prenatal testing: are we prepared?
Author: Dagmar Schmitz
Publication date: 01-08-2013
Publisher: Springer Netherlands
Published in: Medicine, Health Care and Philosophy / Issue 3/2013
Print ISSN: 1386-7423
Electronic ISSN: 1572-8633
DOI: https://doi.org/10.1007/s11019-012-9411-y

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A new era in prenatal testing: are we prepared?

Abstract

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Abstract

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