

Testing for adult-onset conditions using non-invasive prenatal testing: ethical and regulatory issues (970)

Hilary Bowman-Smart 1 2 , Michelle Taylor-Sands 3
  1. Murdoch Children's Research Institute, Parkville, VIC, Australia
  2. Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia
  3. Melbourne Law School, University of Melbourne, Parkville, VIC, Australia

Non-invasive prenatal testing (NIPT) uses a maternal blood sample to provide highly accurate information about a variety of genetic conditions in the foetus. NIPT is currently used primarily to screen for trisomy disorders such as trisomy 21 (Down syndrome), which are immediately apparent at birth. The suite of conditions for which NIPT is available may increase in the future. It is possible to use NIPT to detect adult-onset disorders and risk profiles for conditions which manifest later in life (including through whole genome sequencing). NIPT raises unique concerns as a prenatal testing technique due to ease of use, low risk, and availability early in gestation.

Although expanded prenatal testing enhances reproductive choice and informed decision-making, the use of NIPT to detect adult-onset conditions raises significant ethical concerns about the welfare of the child to be born, particularly where a woman chooses to continue a pregnancy following a positive foetal diagnosis. For example, it may interfere with the child’s ‘right to an open future’. It is necessary to assess the importance of the welfare of the child to be born when making decisions concerning prenatal testing. However, there is little clinical guidance in the Australian context on how to balance the interests of prospective parent(s) and the child to be born.

Currently NIPT is available to Australian women on a privately-funded basis and not specifically regulated. In this paper, we explore the ethical issues raised by NIPT for adult-onset conditions and make some preliminary proposals for regulating NIPT in the future.