NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result

Julie L. Piechan, Karrie A. Hines, Daniel L. Koller, Kristyne Stone, Kimberly Quaid, Wilfredo Torres-Martinez, Divya Wilson Mathews, Tatiana Foroud, Lola Cook

Research output: Contribution to journalArticle

20 Scopus citations


Since becoming clinically available in 2011, the use of noninvasive prenatal testing (NIPT) to screen for fetal aneuploidy has continued to increase. However, it has been questioned whether the education of patients undergoing NIPT consistently meets informed consent standards. We sought to evaluate patients’ basic understanding of NIPT, such as conditions assessed and accuracy. In addition, we investigated patient self-assessment of NIPT knowledge and satisfaction with the testing process. We distributed an anonymous paper survey to pregnant women during prenatal visits following a negative NIPT result. The survey assessed patient NIPT knowledge, gathered pregnancy-specific and demographic information, and allowed respondents to rank their basic understanding of NIPT and provide written feedback about the testing process. A total of 95 completed and 3 partially completed surveys were returned. Participants scored lowest on knowledge questions involving whether a negative NIPT result ensures a healthy baby or eliminates the possibility of Down syndrome. Most perceived themselves to have a good basic understanding of NIPT and two-thirds of the written feedback proposed no changes to NIPT administration. Overall, most patients appear satisfied with their understanding of NIPT and the testing process, yet they may not fully appreciate the limitations of this screening method.

Original languageEnglish (US)
Pages (from-to)1127-1137
Number of pages11
JournalJournal of Genetic Counseling
Issue number5
StatePublished - Oct 1 2016


  • Cell-free fetal DNA
  • Informed consent
  • Noninvasive prenatal screening
  • Noninvasive prenatal testing
  • Patient education
  • Patient knowledge
  • cffDNA

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result'. Together they form a unique fingerprint.

  • Cite this

    Piechan, J. L., Hines, K. A., Koller, D. L., Stone, K., Quaid, K., Torres-Martinez, W., Wilson Mathews, D., Foroud, T., & Cook, L. (2016). NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result. Journal of Genetic Counseling, 25(5), 1127-1137.