Abstract
Prenatal screening strategies are undergoing rapid changes owing to the introduction of new testing techniques. The overall tendency is towards broadening the scope of prenatal testing through increasingly sensitive ultrasound scans and genome-wide molecular tests. In addition, non-invasive prenatal diagnosis is likely to be introduced in the near future. These developments raise important ethical questions concerning meaningful reproductive choice, the autonomy rights of future children, equity of access and the proportionality of testing.
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References
Bui, T.-H. & Meiner, V. in The Janus Face of Prenatal Diagnostics. A European Study Bridging Ethics, Psycholanalysis, and Medicine (eds Leuzinger-Bohleber, M,. Engels, E.-M. & Tsiantis, J.) 61–86 (Karnac Books, London, 2008).
Tapon, D. Prenatal testing for Down syndrome: comparison of screening practices in the UK and USA. J. Genet. Couns. 19, 112–130 (2010).
Salomon, L. et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet. Gynecol. 37, 116–126 (2011).
Beauchamp, T. L. & Childress, J. F. Principles of Biomedical Ethics (Oxford Univ. Press, New York/Oxford, 2009).
Health Council of the Netherlands. Screening: between hope and hype. Health Council of the Netherlands [online], (2008).
Nuffield Council on Bioethics. Genetic genetic screening: a Supplement to the 1993 Report by the Nuffield Council on Bioethics. Nuffield Council on Bioethics [online], (2006).
de Wert, G. & Dondorp, W. in Prenatal medicine (eds van Vugt, M. & Shulman, K.) 575–604 (Taylor & Francis, New York/London, 2006).
Wertz, D. & Knoppers, B. Serious genetic disorders: can or should they be defined? Am. J. Med. Genet. 108, 29–35 (2002).
Parens, E. & Asch, A. (eds) Prenatal Testing And Disability Rights (Georgetown Univ. Press, Georgetown, 2000).
American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obestet. Gynecol. 110, 1459–1467 (2007).
Caine, A., Maltby, A. E., Parkin, C. A., Waters, J. J. & Crolla, J. A. Prenatal detection of Down's syndrome by rapid aneuploidy without a full karyotype: a cytogenetic risk assessment. Lancet 366, 123–128 (2005).
Leung, W. et al. Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide? Hong Kong Med. J. 14, 6–13 (2008).
Ogilvie, C. M,. Yaron, Y. & Beaudet, A. L. Current controversies in prenatal diagnosis 3: for prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenat Diagn. 29, 11–14 (2009).
UK National Screening Committee. Fetal anomaly screening programme — screening for down's syndrome: UK NSC policy recommendations 2007–2010: model of best practice. Department of Health [online], (2008).
Faas, B. H. W,. Cirigliano, V. & Bui, T.-H. Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies. Semin. Fetal Neonatal Med. 16, 81–87 (2011).
van Zwieten, M. The Target of Testing. Dealing With 'Unexpected' Findings In Prenatal Diagnosis (Uitgeverij Buijten & Schipperheijn, Amsterdam, 2006).
Lim, A. et al. Rapid aneuploidy screening with fluorescence in-situ hybridisation: is it a sufficiently robust stand-alone test for prenatal diagnosis? Hong Kong Med. J. 16, 427–433 (2010).
de Jong, A., Dondorp, W., Timmermans, D., van Lith, J. & de Wert, G. Rapid aneuploidy detection or karyotyping? Ethical reflection. Eur. J. Hum. Genet. 1 Jun 2011 (doi:10.1038/ejhg.2011.82).
Boormans, E. et al. Individualized choice in prenatal diagnosis: the impact of karyotyping and standalone rapid aneuploidy detection on quality of life. Prenat. Diagn. 30, 928–936 (2010).
Bui, T.-H. Prenatal cytogenetic diagnosis: gone FISHing, BAC soon! Ultrasound Obstet. Gynecol. 30, 247–251 (2007).
Cirigliano, V. et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience. Prenat. Diagn. 29, 40–49 (2009).
Rochon, M. & Eddleman, K. Controversial ultrasound findings. Obstet. Gynecol. Clin. North Am. 31, 61–99 (2004).
Bethune, M. Time to reconsider our approach to echogenic intracardiac focus and choroid plexus cysts. Aust. N. Z. J. Obstet. Gynaecol. 48, 137–141 (2008).
Schoonen, H. et al. Informed decision-making about the fetal anomaly scan: what knowledge is relevant? Ultrasound Obstet. Gynecol. 37, 649–657 (2010).
Bilardo, C., Timmerman, E., Pajkrt, E. & van Maarle, M. Increased nuchal translucency in euploid fetuses — what should we be telling the parents? Prenat. Diagn. 30, 93–102 (2010).
Sonek, J. First trimester ultrasonography in screening and detection of fetal anomalies. Am. J. Med. Genet. C Semin. Med. Genet. 145C, 145–161 (2007).
Bui, T.-H, . Vetro, A., Zuffardi, O. & Shaffer, L. G. Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenat. Diagn. 31, 235–243 (2011).
Dondorp, W. & de Wert, G. Publication no. 2010/15. The 'thousand-dollar genome': an ethical exploration. Health Council of the Netherlands [online], (2010).
Savage, M,. Mourad, M. & Wapner, R. Evolving applications of microarray analysis in prenatal diagnosis. Curr. Opin. Obstet. Gynecol. 23, 103–108 (2011).
de Ravel, T., Devriendt, K., Fryns, J. & Vermeesch, J. What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH). Eur. J. Pediatr. 166, 637–643 (2007).
Maya, I. et al. Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat. Diagn. 30, 1131–1137 (2010).
Van den Veyver, I. et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat. Diagn. 29, 29–39 (2009).
American Committee of Obstetricians and Gynecologists. ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet. Gynecol. 114, 1161–1163 (2009).
Faas, B. et al. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. J. Med. Genet. 47, 586–594 (2010).
Hillman, S. et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet. Gynecol. 37, 6–14 (2011).
Avent, N., Madgett, T., Maddocks, D. & Soothill, P. Cell-free fetal DNA in the maternal serum and plasma: current and evolving applications. Curr. Opin. Obstet. Gynecol. 21, 175–179 (2009).
Lo, Y. Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art. BJOG 116, 152–157 (2009).
Wright, C. Cell-free fetal nucleic acids for non-invasive prenatal diagnosis. Report of the UK expert working group. PHG Foundation [online], (2009).
Lo, Y. M. D. et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Transl. Med. 2, 61ra91 (2010).
de Jong, A., Dondorp, W., de Die-Smulders, C., Frints, S. & de Wert, G. Non-invasive prenatal testing: ethical issues explored. Eur. J. Hum. Genet. 18, 272–277 (2010).
Elias, S. & Annas, G. Generic consent for genetic screening. N. Engl. J. Med. 330, 1611–1613 (1994).
Feinberg, J. in Whose Child? Children's Rights, Parental Autonomy, and State Power (eds Aiken, W. & Lafollette, H.) 124–153 (Littlefield, Adams & Co, New Jersey, 1980).
Human Genetics Commission and the UK National Screening Committee (Joint Working Group). Profiling the Newborn: A Prospective Gene Technology? (UKNSC, London, 2005).
Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG). Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 17, 720–721 (2009).
de Wert, G. in Prenatal Testing for Late-Onset Neurogenetic Diseases (eds Evers-Kiebooms, G., Zoetewij, M. & Harper, P.) 129–157 (Bios Scientific Publishers, Oxford, 2002).
Kuppermann, M. & Norton, M. Prenatal testing guidelines: time for a new approach. Gynecol. Obstet. Invest. 60, 6–10 (2005).
Boyle, R. & Savulescu, J. Prenatal diagnosis for “minor” genetic abnormalities is ethical. Am. J. Bioeth. 3, W60–W65 (2003).
Stewart, A. et al. Genetics, Health Care and Public Policy (Cambridge Univ. Press, UK, 2007).
Wilson, J. & Jungner, G. Principles and practice of screening for disease. World Health Organization [online], (1968).
Health Council of the Netherlands. Genetic screening. Health Council of the Netherlands [online], (1994).
Haddow, J. & Palomaki, G. in Human Genome Epidemiology. A Scientific Foundation For Using Genetic Information To Improve Health And Prevent Disease (eds Khoury, M., Little, J. & Burke, W.) 217–233 (Oxford Univ. Press, 2004).
Lo, Y. M. D. et al. DNA in maternal plasma and serum. Lancet 350, 485–487 (1997).
Wright, C. F. & Burton, H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum. Reprod. Update 15, 139–151 (2009).
Chiu, R. et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl Acad. Sci. USA 105, 20458–20463 (2008).
Fan, H., Blumenfeld, Y., Chitkara, U., Hudgins, L. & Quake, S. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl Acad. Sci. USA 105, 16266–16271 (2008).
Chiu, R. et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 342, c7401 (2011).
Chiu, R. & Lo, Y. Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age. Semin. Fetal Neonatal Med. 16, 88–93 (2010).
Papageorgiou, E. A. et al. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nature Med. 17, 510–513 (2011).
Acknowledgements
We thank M. Macville for his valuable comments on this paper. This research was supported by the Centre for Society and Genomics, funded by the Netherlands Genomics Initiative (project number: 70.1.061b) and the Dutch Research Prevention Fund project, Netherlands Organisation for Scientific Research (NWO) (project number: 200320009).
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de Jong, A., Dondorp, W., Frints, S. et al. Advances in prenatal screening: the ethical dimension. Nat Rev Genet 12, 657–663 (2011). https://doi.org/10.1038/nrg3036
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DOI: https://doi.org/10.1038/nrg3036
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