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

Mollie A. Minear, Stephanie Alessi, Megan Allyse, Marsha Michie, Subhashini Chandrasekharan

Research output: Contribution to journalArticlepeer-review

54 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)369-398
Number of pages30
JournalAnnual Review of Genomics and Human Genetics
StatePublished - Aug 24 2015


  • Disability and reproductive rights
  • Fetal genome sequencing
  • Genetic counseling
  • Informed decision making
  • Regulation and oversight

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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