Ethical Issues of Noninvasive Prenatal Testing for Down Syndrome


The rapid introduction of non‐invasive prenatal testing for Down syndrome into clinical practice has reignited the ethical debate around testing technologies and their potential impact on individuals and society. The debate is centred on the benefits of the new technology in terms of enhancing autonomous choice versus the rights of people with Down syndrome and their families not to be harmed. While cell‐free DNA technology can increase access to early, safe information about a pregnancy it may also help undermine the inclusion of people with Down syndrome in our communities. Within this highly charged social arena, individual women and men make personal reproductive decisions and the quality of life of people with Down syndrome and their families is subject to public scrutiny.

Key Concepts

  • Noninvasive prenatal testing for Down syndrome (trisomy 21) using cell‐free DNA in maternal blood has spread rapidly into clinical practice.
  • Noninvasive prenatal testing can be conducted reliably from around 9 weeks gestation, carries no risk of miscarriage, has a higher detection rate and lower false positive rate than existing screening tests but is not yet diagnostic for Down syndrome.
  • The introduction of noninvasive prenatal testing has reignited existing ethical arguments around the benefits of reduced of harm to the unborn foetus versus the potential harms to people with Down syndrome and their families.
  • The limitations of the new screening test have been less well publicised than the benefits, which may impact on the ability of women to make informed choices and interpret test results.
  • There are concerns that the widespread introduction of noninvasive prenatal testing as a safe, early and accurate test may lead to significant reductions in the number of people with Down syndrome being born and that the test therefore supports a eugenics agenda.
  • Personal contact with disabled people is associated with more positive attitudes towards disability, which in turn are associated with less favourable attitudes to termination of affected pregnancies; over time, a significant reduction in the number of people with Down syndrome would reduce opportunities for personal interaction.
  • The widespread introduction on noninvasive prenatal testing enables access to a safe test for more women; however, currently, the test is available through private health providers or medical insurance schemes only reducing access to many women on lower incomes.

Keywords: Down syndrome; trisomy 21; informed choice; informed decision‐making; autonomy; noninvasive prenatal testing; cell‐free DNA testing; ethical issues


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Further Reading

Hewison J (2015) Psychological aspects of individualized choice and reproductive autonomy in prenatal screening. Bioethics 29 (1): 9–18.

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Thomas GM and Rothman BK (2016) Keeping the backdoor to Eugenics Ajar?: disability and the future of prenatal screening. AMA Journal of Ethics 18 (4): 406.

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Bryant, Louise D(Aug 2017) Ethical Issues of Noninvasive Prenatal Testing for Down Syndrome. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0027187]