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Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection

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Abstract

Genomic microarray analysis is increasingly being applied as a prenatal diagnostic tool. Microarrays enable searching the genome at a higher resolution and with higher sensitivity than conventional karyotyping for identifying clinically significant chromosomal abnormalities. As yet, no clear guidelines exist on whether microarrays should be applied prenatally for all indications or only in selected cases such as ultrasound abnormalities, whether a targeted or genome-wide array should be used, and what these should include exactly. In this paper, we present some ethical considerations on the prenatal use of microarrays. There is a strong consensus, at least in Western countries, that the aim of prenatal screening for foetal abnormalities should be understood as facilitating autonomous reproductive choice for prospective parents. The tests offered should be valid and useful to reach that purpose. Against this background, we address several ethical issues raised by the prenatal application of microarrays. First, we argue that the general distinction between a targeted and a genome-wide microarray needs to be scrutinised. Then we examine whether microarrays are ‘suitable tests’ to serve either a screening or a diagnostic purpose. Given the wide range of findings possibly generated by microarrays, the question arises whether microarrays actually promote or interfere with autonomous reproductive decision-making. Moreover, if variants of unknown clinical significance are identified, this adds to the burden and complexity of reproductive decision-making. We suggest a qualified use of microarrays in the prenatal context.

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Acknowledgments

This research was supported by the CSG Centre for Society and the Life Sciences, funded by The Netherlands Genomics Initiative (Project number: 70.1.061b).

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Authors and Affiliations

  1. Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands

    Antina de Jong, Wybo J. Dondorp & Guido M. W. R. de Wert

  2. GROW, School for Oncology and Developmental Biology, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands

    Antina de Jong, Wybo J. Dondorp, Christine E. M. de Die-Smulders & Guido M. W. R. de Wert

  3. CAPHRI, School for Public Health and Primary Care, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands

    Wybo J. Dondorp & Guido M. W. R. de Wert

  4. CSG Centre for Society and the Life Sciences, Postvak 77, PO Box 9010, 6500 GL, Nijmegen, The Netherlands

    Antina de Jong & Guido M. W. R. de Wert

  5. Clinical Laboratory, Unit Cytogenetics, Department of Clinical Genetics, Maastricht University Clinical Genetics, PO Box 5800, 6202 AZ, Maastricht, The Netherlands

    Merryn V. E. Macville

  6. Department of Clinical Genetics, Maastricht University Medical Center+, azM, PO Box 5800, 6202 AZ, Maastricht, The Netherlands

    Christine E. M. de Die-Smulders

  7. Department of Obstetrics and Fetal Medicine, Leiden University Medical Centre, P.O. Box 9600, 2300 RC, Leiden, The Netherlands

    Jan M. M. van Lith

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  1. Antina de Jong
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  3. Merryn V. E. Macville
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Correspondence to Antina de Jong.

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de Jong, A., Dondorp, W.J., Macville, M.V.E. et al. Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection. Hum Genet 133, 163–172 (2014). https://doi.org/10.1007/s00439-013-1365-5

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