Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues

Annu Rev Genomics Hum Genet. 2015;16:369-98. doi: 10.1146/annurev-genom-090314-050000.


Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care.

Keywords: disability and reproductive rights; fetal genome sequencing; genetic counseling; informed decision making; regulation and oversight.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Abortion, Induced / ethics
  • Abortion, Induced / legislation & jurisprudence
  • Aneuploidy
  • Female
  • Genetic Counseling / ethics*
  • Genetic Counseling / legislation & jurisprudence
  • Genetic Counseling / methods
  • Genetic Testing / ethics
  • Genetic Testing / legislation & jurisprudence
  • Genetic Testing / methods*
  • Humans
  • Informed Consent
  • Intellectual Property
  • Patient Education as Topic
  • Physicians / legislation & jurisprudence
  • Pregnancy
  • Prenatal Diagnosis / ethics*
  • Prenatal Diagnosis / methods
  • Prenatal Diagnosis / trends