Non invasive prenatal testing for single gene disorders: Exploring the ethics

Zuzana Deans, Melissa Hill, Lyn Chitty, Celine Lewis

Research output: Contribution to journalArticle (Academic Journal)peer-review

32 Citations (Scopus)
403 Downloads (Pure)


Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy. Before widespread implementation, it is important to consider the possible ethical implications. Four hypothetical scenarios are presented that highlight how ethical ideals of respect for autonomy, privacy and fairness may come into play when offering non-invasive prenatal testing for single gene disorders. The first scenario illustrates the moral case for using these tests for ‘information only’, identifying a potential conflict between larger numbers of women seeking the benefits of the test and the wider social impact of funding tests that do not offer immediate clinical benefit. The second scenario shows how the simplicity and safety of non-invasive prenatal testing could lead to more autonomous decision-making and, conversely, how this could also lead to increased pressure on women to take up testing. In the third scenario we show how, unless strong safeguards are put in place, offering non-invasive prenatal testing could be subject to routinisation with informed consent undermined and that woman who are newly diagnosed as carriers may be particularly vulnerable. The final scenario introduces the possibility of a conflict of the moral rights of a woman and her partner through testing for single gene disorders. This analysis informs our understanding of the potential impacts of non-invasive prenatal testing for single gene disorders on clinical practice and has implications for future policy and guidelines for prenatal care.
Original languageEnglish
Pages (from-to)713-718
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number7
Early online date28 Nov 2012
Publication statusPublished - Jul 2013


  • NIPT
  • Ethics
  • Single gene disorders
  • cell-free fetal DNA
  • non-invasive prenatal diagnosis

Fingerprint Dive into the research topics of 'Non invasive prenatal testing for single gene disorders: Exploring the ethics'. Together they form a unique fingerprint.

Cite this