Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications

Public Health Genomics. 2010;13(4):246-55. doi: 10.1159/000279626. Epub 2010 Apr 15.


Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA / analysis*
  • Ethics, Medical
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Fetus
  • Genetic Markers
  • Genetic Testing / ethics*
  • Genetic Testing / methods*
  • Humans
  • Informed Consent
  • Pregnancy
  • Prenatal Diagnosis / ethics*
  • Prenatal Diagnosis / methods*


  • Genetic Markers
  • DNA