Rapid aneuploidy detection or karyotyping? Ethical reflection

Antina de Jong*, Wybo J. Dondorp, Danielle R. M. Timmermans, Jan M. M. van Lith, Guido M. W. R. de Wert

*Corresponding author for this work

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Abstract

No consensus exists whether women at increased risk for trisomy 21, 13, and 18 should be offered stand-alone rapid aneuploidy detection (RAD) or karyotyping. In this paper, the ethical implications of a fast, relatively cheap and targeted RAD are examined. The advantages of RAD seem less robust than its proponents suggest. Fast test results only give a short-term psychological benefit. The cost advantage of RAD is apparent, but must be weighed against consequences like missed abnormalities, which are evaluated differently by professionals and pregnant women. Since pre-test information about RAD will have to include telling women about karyotyping as a possible alternative, the advantage of RAD in terms of the quantity of information that needs to be given may also be smaller than suggested. We conclude that none of the supposed arguments in favour of RAD is decisive in itself. Whether the case for RAD may still be regarded as convincing when taking these arguments together seems to depend on one's implicit view of what prenatal screening is about. Are we basically dealing with a test for trisomy 21 and a few conditions more? Or are there good grounds for also testing for the wider range of abnormalities that karyotyping can detect? As professionals and pregnant women may have different views about this, we suggest that the best approach is to offer women a choice between RAD and karyotyping. This approach is most in line with the general aim of prenatal screening: providing opportunities for autonomous reproductive choice. European Journal of Human Genetics (2011) 19, 1020-1025; doi:10.1038/ejhg.2011.82; published online 1 June 2011
Original languageEnglish
Pages (from-to)1020-1025
JournalEuropean Journal of Human Genetics
Volume19
Issue number10
DOIs
Publication statusPublished - Oct 2011

Keywords

  • rapid aneuploidy detection
  • karyotyping
  • ethics
  • prenatal diagnosis
  • reproductive choice

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