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

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

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.

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Notes

  1. NIPT is also referred to as noninvasive prenatal screening (NIPS) and cell-free fetal DNA testing for aneuploidy

  2. Survey available upon request from the authors

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Acknowledgments

This study was completed in partial fulfillment of the requirements for the first author’s Master of Science degree. The authors would like to thank the staff at the participating centers for their feedback on survey drafts and their assistance in survey distribution. The authors would also like to thank the survey participants for their time and willingness to contribute to this study.

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Authors and Affiliations

  1. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Medical Research and Library Building, Room IB-130, 975 West Walnut Street, Indianapolis, IN, 46202-5251, USA

    Julie L. Piechan

  2. Division of Maternal Fetal Medicine, Indiana University Health, Indianapolis, IN, USA

    Karrie A. Hines & Kristyne Stone

  3. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA

    Daniel L. Koller, Kimberly Quaid, Wilfredo Torres-Martinez & Tatiana Foroud

  4. Maternal-Fetal Medicine and Genetics Center, St. Vincent Hospital and Health Services, Indianapolis, IN, USA

    Divya Wilson Mathews & Lola Cook

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  1. Julie L. Piechan
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  2. Karrie A. Hines
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  3. Daniel L. Koller
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  4. Kristyne Stone
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  9. Lola Cook
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Correspondence to Julie L. Piechan.

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Conflict of Interest

Authors Julie L. Piechan, Karrie A. Hines, Kristyne Stone, Daniel L. Koller, Kimberly Quaid, Wilfredo Torres-Martinez, Divya Wilson Mathews, Tatiana Foroud, and Lola Cook declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients to be included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Piechan, J.L., Hines, K.A., Koller, D.L. et al. NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result. J Genet Counsel 25, 1127–1137 (2016). https://doi.org/10.1007/s10897-016-9945-x

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  • DOI: https://doi.org/10.1007/s10897-016-9945-x

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