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Spanish- and English-Speaking Pregnant Women’s Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections

Abstract

The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers’ advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.

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Notes

  1. 1.

    All names listed for participants are pseudonyms.

References

  1. Allyse, M., Sayres, L. C., Goodspeed, T. A., & Cho, M. K. (2014). Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age. Journal of Perinatology, 34(6), 429–434.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  2. Allyse, M., Sayres, L. C., Goodspeed, T., Michie, M., & Cho, M. K. (2015). “Don’t want no risk and don’t want no problems”: public understandings of the risks and benefits of noninvasive prenatal testing in the United States. AJOB Empirical Bioethics, 6(1), 5–20.

    Article  PubMed  PubMed Central  Google Scholar 

  3. American College of Obstetricians and Gynecologists. (2012). Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obstetrics & Gynecology, 120, 1532–1534.

    Article  Google Scholar 

  4. American College of Obstetricians and Gynecologists. (2015). Committee opinion no. 640: cell-free DNA screening for fetal aneuploidy. Obstetrics & Gynecology, 126(3), e31–e37.

    Article  Google Scholar 

  5. Beamon, C. J., Hardisty, E. E., Harris, S. C., & Vora, N. L. (2014). A single center’s experience with noninvasive prenatal testing. Genetics in Medicine, 16(9), 681–687.

    Article  PubMed  Google Scholar 

  6. Benn, P., Borrell, A., Chiu, R. W. K., Cuckle, H., Dugoff, L., Faas, B., & Yaron, Y. (2015). Position statement from the chromosome abnormality screening committee on behalf of the board of the international society for prenatal diagnosis. Prenatal Diagnosis, 35(8), 725–734.

    Article  PubMed  Google Scholar 

  7. Boardman, F. K. (2014). The expressivist objection to prenatal testing: the experiences of families living with genetic disease. Social Science and Medicine, 107, 18–25.

    Article  PubMed  Google Scholar 

  8. California Department of Public Health Genetic Disease Screening Program. (2013). Prenatal screening program changes, effective November 2013. Retrieved from http://www.cdph.ca.gov/programs/GDSP/Documents/Newletter%20nov%20%202013.pdf.

  9. Charmaz, K. (2006). Constructing grounded theory: a practical guide through qualitative analysis. Thousand Oaks, CA: Sage.

    Google Scholar 

  10. Cheng, E., Chen, A., & Cunningham, W. (2007). Primary language and receipt of recommended health care among Hispanics in the United States. Journal of General Internal Medicine, 22(2), 283–288.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Chetty, S., Garabedian, M. J., & Norton, M. E. (2013). Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenatal Diagnosis, 33(6), 542–546.

    Article  PubMed  Google Scholar 

  12. Chiu, R. W., Chan, K. C., Gao, Y., Lau, V. Y., Zheng, W., Leung, T. Y., & Lo, Y. M. (2008). Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proceedings of the National Academy of Sciences of the United States of America, 105(51), 20458–20463.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  13. Cunningham, G. C., & Tompkinson, D. G. (1999). Cost and effectiveness of the California triple marker prenatal screening program. Genetics in Medicine, 1(5), 199–206.

    CAS  Article  PubMed  Google Scholar 

  14. Currier, R., Wu, N., Van Meter, K., Goldman, S., Lorey, F., & Flessel, M. (2012). Integrated and first trimester prenatal screening in California: program implementation and patient choice for follow-up services. Prenatal Diagnosis, 32(11), 1077–1083.

    Article  PubMed  Google Scholar 

  15. Dahl, K., Hvidman, L., Jorgensen, F. S., Henriques, C., Olesen, F., Kjaergaard, H., & Kesmodel, U. S. (2011). First-trimester down syndrome screening: pregnant women’s knowledge. Ultrasound in Obstetrics & Gynecology, 38(2), 145–151.

    CAS  Article  Google Scholar 

  16. Daley, B. (2014). Oversold prenatal tests spur some to choose abortions. The Boston Globe. Retrieved from https://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregula…ading-abortions-healthy-fetuses/aKFAOCP5N0Kr8S1HirL7EN/story.html.

  17. Dedoose Version 5.0.11, web application for managing, analyzing, and presenting qualitative and mixed method research data. (2014). Los Angeles, CA: SocioCultural Research Consultants, LLC. Retrieved from http://www.dedoose.com.

  18. Dixon, V., & Burton, N. (2014). Are midwifery clients in Ontario making informed choices about prenatal screening? Women and Birth, 27(2), 86–90.

    Article  PubMed  Google Scholar 

  19. Farrell, R., Mercer, M., Agatisa, P., Smith, M., & Philipson, E. (2014). It’s more than a blood test: patients’ perspectives on noninvasive prenatal testing. Journal of Clinical Medicine, 3(2), 614–631.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Farrell, R., Hawkins, A., Barragan, D., Hudgins, L., & Taylor, J. (2015). Knowledge, understanding, and uptake of noninvasive prenatal testing among Latina women. Prenatal Diagnosis, 35(8), 748–753.

    Article  PubMed  Google Scholar 

  21. Fiscella, K., Franks, P., Doescher, M. P., & Saver, B. G. (2002). Disparities in health care by race, ethnicity, and language among the insured: findings from a national sample. Medical Care, 40(1), 52–59.

    Article  PubMed  Google Scholar 

  22. Flores, G. (2005). The impact of medical interpreter services on the quality of health care: a systematic review. Medical Care Research and Review, 62(3), 255–299.

    Article  PubMed  Google Scholar 

  23. Garcia, J., Bricker, L., Henderson, J., Martin, M. A., Mugford, M., Nielson, J., & Roberts, T. (2002). Women’s views of pregnancy ultrasound: a systematic review. Birth-Issues in Perinatal Care, 29(4), 225–250.

    Article  Google Scholar 

  24. Glaser, B. G., & Strauss, A. L. (1967). The discovery of grounded theory. Chicago: Aldine.

    Google Scholar 

  25. Gregg, A. R., Gross, S. J., Best, R. G., Monaghan, K. G., Bajaj, K., Skotko, B. G., & Watson, M. S. (2013). ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genetics in Medicine, 15(5), 395–398.

    CAS  Article  PubMed  Google Scholar 

  26. Griffiths, C., & Kuppermann, M. (2008). Perceptions of prenatal testing for birth defects among rural Latinas. Maternal and Child Health Journal, 12(1), 34–42.

    Article  PubMed  Google Scholar 

  27. Horsting, J. M. H., Dlouhy, S. R., Hanson, K., Quaid, K., Bai, S., & Hines, K. A. (2014). Genetic counselors’ experience with cell-free fetal DNA testing as a prenatal screening option for aneuploidy. Journal of Genetic Counseling, 23(3), 377–400.

    Article  PubMed  Google Scholar 

  28. Julliard, K., Vivar, J., Delgado, C., Cruz, E., Kabak, J., & Sabers, H. (2008). What Latina patients don’t tell their doctors: a qualitative study. Annals of Family Medicine, 6(6), 543–549.

    Article  PubMed  PubMed Central  Google Scholar 

  29. Kaposy, C. (2013). A disability critique of the new prenatal test for Down syndrome. Kennedy Institute of Ethics Journal, 23(4), 299–324.

    Article  PubMed  Google Scholar 

  30. Kloza, E., Haddow, P., Halliday, J., O’Brien, B., Lambert-Messerlian, G., & Palomaki, G. (2015). Evaluation of patient education materials: the example of circulating cell free DNA testing for aneuploidy. Journal of Genetic Counseling, 24(2), 259–266.

    Article  PubMed  Google Scholar 

  31. Knutzen, D. M., Stoll, K. A., McClellan, M. W., Deering, S. H., & Foglia, L. M. (2013). Improving knowledge about prenatal screening options: can group education make a difference? Journal of Maternal-Fetal and Neonatal Medicine, 26(18), 1799–1803.

    Article  PubMed  Google Scholar 

  32. Kuppermann, M., Gates, E., & Washington, A. E. (1996). Racial-ethnic differences in prenatal diagnostic test use and outcomes: preferences, socioeconomics, or patient knowledge? Obstetrics & Gynecology, 87(5 Pt 1), 675–682.

    CAS  Article  Google Scholar 

  33. Kuppermann, M. P. M. P. H., Learman, L. A. M. D. P., Gates, E. M. D., Gregorich, S. E. P., Nease, R. F. J. P., Lewis, J. M. D., & Washington, A. E. M. D. M. S. (2006). Beyond race or ethnicity and socioeconomic status: predictors of prenatal testing for Down syndrome. Obstetrics & Gynecology, 107(5), 1087–1097.

    Article  Google Scholar 

  34. Kuppermann, M., Norton, M. E., Gates, E., Gregorich, S. E., Learman, L. A., Nakagawa, S., & Nease, R. F., Jr. (2009). Computerized prenatal genetic testing decision-assisting tool: a randomized controlled trial. Obstetrics & Gynecology, 113(1), 53–63.

    Article  Google Scholar 

  35. Kuppermann, M., Pena, S., Bishop, J. T., Nakagawa, S., Gregorich, S. E., Sit, A., & Norton, M. E. (2014). Effect of enhanced information, values clarification, and removal of financial barriers on use of prenatal genetic testing: a randomized clinical trial. Journal of the American Medical Association, 312(12), 1210–1217.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  36. Lewis, C., Silcock, C., & Chitty, L. S. (2013). Non-invasive prenatal testing for Down’s syndrome: pregnant women’s views and likely uptake. Public Health Genomics, 16(5), 223–232.

    CAS  Article  PubMed  Google Scholar 

  37. Lichtenbelt, K. D., Diemel, B. D. M., Koster, M. P. H., Manten, G. T. R., Siljee, J., Schuring-Blom, G. H., & Page-Christiaens, G. C. M. L. (2015). Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non-invasive prenatal testing? Prenatal Diagnosis, 35(7), 663–668.

    CAS  Article  PubMed  Google Scholar 

  38. Making Health Care Decisions: A Report on the Ethical and Legal Implications of Informed Consent in the Patient-Practitioner Relationship. (1982). (Vol One): president’s commission for the study of ethical problems in medicine and biomedical and behavioral research.

  39. Markens, S., Browner, C. H., & Preloran, H. M. (2010). Interrogating the dynamics between power, knowledge and pregnant bodies in amniocentesis decision making. Sociology of Health & Illness, 32(1), 37–56.

    Article  Google Scholar 

  40. Marteau, T. M., & Dormandy, E. (2001). Facilitating informed choice in prenatal testing: how well are we doing? American Journal of Medical Genetics, 106(3), 185–190.

    CAS  Article  PubMed  Google Scholar 

  41. Miles, M. B., Huberman, A. M., & Saldaña, J. (2013). Qualitative data analysis: a methods sourcebook. Thousand Oaks, CA: Sage.

    Google Scholar 

  42. Minear, M. A., Alessi, S., Allyse, M., Michie, M., & Chandrasekharan, S. (2015). Noninvasive prenatal genetic testing: current and emerging ethical, legal, and social issues. Annual Review of Genomics and Human Genetics, 16, 369–398.

    CAS  Article  PubMed  Google Scholar 

  43. Molander, E., Alehagen, S., & Berterö, C. M. (2010). Routine ultrasound examination during pregnancy: a world of possibilities. Midwifery, 26(1), 18–26.

    Article  PubMed  Google Scholar 

  44. Moyer, A., Brown, B., Gates, E., Daniels, M., Brown, H. D., & Kuppermann, M. (1999). Decisions about prenatal testing for chromosomal disorders: perceptions of a diverse group of pregnant women. Journal of Women’s Health & Gender-Based Medicine, 8(4), 521–531.

    CAS  Article  Google Scholar 

  45. Nagle, C., Gunn, J., Bell, R., Lewis, S., Meiser, B., Metcalfe, S., & Halliday, J. (2008). Use of a decision aid for prenatal testing of fetal abnormalities to improve women’s informed decision making: a cluster randomised controlled trial [ISRCTN22532458]. BJOG-an International Journal of Obstetrics and Gynaecology, 115(3), 339–347.

    CAS  Article  PubMed  Google Scholar 

  46. Nicolaides, K. H., Syngelaki, A., Gil, M., Atanasova, V., & Markova, D. (2013). Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenatal Diagnosis, 33(6), 575–579.

    CAS  Article  PubMed  Google Scholar 

  47. Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., & Wapner, R. J. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. New England Journal of Medicine, 372(17), 1589–1597.

    CAS  Article  PubMed  Google Scholar 

  48. Parens, E., & Asch, A. (1999). Special supplement: the disability rights critique of prenatal genetic testing reflections and recommendations. The Hastings Center Report, 29(5), S1–S22.

    CAS  Article  PubMed  Google Scholar 

  49. Parens, E., & Asch, A. (2000). Prenatal testing and disability rights. Washington, D.C.: Georgetown University Press.

    Google Scholar 

  50. Penchaszadeh, V. B. (2001). Genetic counseling issues in Latinos. Genetic Testing, 5(3), 193–200.

    CAS  Article  PubMed  Google Scholar 

  51. Pew Research Center. (2015). America’s changing religious landscape. Retrieved from http://www.pewforum.org/2015/05/12/americas-changing-religious-landscape/.

  52. Pitkin Derose, K., Bahney, B. W., Lurie, N., & Escarce, J. J. (2009). Review: immigrants and health care access, quality, and cost. Medical Care Research and Review, 66(4), 355–408.

    Article  Google Scholar 

  53. Porreco, R. P., Garite, T. J., Maurel, K., Marusiak, B., Ehrich, M., van den Boom, D., & Bombard, A. (2014). Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. American Journal of Obstetrics and Gynecology, 211(4), 365.e1–12.

    CAS  Article  Google Scholar 

  54. Preloran, H. M., Browner, C. H., & Lieber, E. (2005). Impact of interpreters’ approach on Latinas’ use of amniocentesis. Health Education & Behavior, 32(5), 599–612.

    Article  Google Scholar 

  55. Press, N., & Browner, C. H. (1998). Characteristics of women who refuse an offer of prenatal diagnosis: data from the California maternal serum alpha fetoprotein blood test experience. American Journal of Medical Genetics, 78(5), 433–445.

    CAS  Article  PubMed  Google Scholar 

  56. Ransford, H. E., Carrillo, F. R., & Rivera, Y. (2010). Health care-seeking among Latino immigrants: blocked access, use of traditional medicine, and the role of religion. Journal of Health Care for the Poor and Underserved, 21(3), 862–878.

    Article  PubMed  Google Scholar 

  57. Raspberry, K. A., & Skinner, D. (2011). Negotiating desires and options: how mothers who carry the fragile X gene experience reproductive decisions. Social Science and Medicine, 72(6), 992–998.

    Article  PubMed  PubMed Central  Google Scholar 

  58. Sandelowski, M. (1994). Channel of desire: fetal ultrasonography in two use-contexts. Qualitative Health Research, 4(3), 262–280.

    Article  Google Scholar 

  59. Sayres, L. C., Allyse, M., Goodspeed, T. A., & Cho, M. K. (2014). Demographic and experiential correlates of public attitudes towards cell-free fetal DNA screening. Journal of Genetic Counseling, 23(6), 957–967.

    Article  PubMed  PubMed Central  Google Scholar 

  60. Seth, S. G., Goka, T., Harbison, A., Hollier, L., Peterson, S., Ramondetta, L., & Noblin, S. (2011). Exploring the role of religiosity and spirituality in amniocentesis decision-making among Latinas. Journal of Genetic Counseling, 20(6), 660–673.

    Article  PubMed  Google Scholar 

  61. Stoll, K., and Lindh, H. (2015) PPV Puffery? Sizing up NIPT Statistics. The DNA Exchange [blog]. Retrieved from http://thednaexchange.com/2015/05/04/guest-post-ppv-puffery-sizing-up-nipt-statistics/.

  62. Taylor, J. B., Chock, V. Y., & Hudgins, L. (2014). NIPT in a clinical setting: an analysis of uptake in the first months of clinical availability. Journal of Genetic Counseling, 23(1), 72–78.

    Article  PubMed  Google Scholar 

  63. Tischler, R., Hudgins, L., Blumenfeld, Y. J., Greely, H. T., & Ormond, K. E. (2011). Noninvasive prenatal diagnosis: pregnant women’s interest and expected uptake. Prenatal Diagnosis, 31(13), 1292–1299.

    Article  PubMed  PubMed Central  Google Scholar 

  64. van Schendel, R. V., Kleinveld, J. H., Dondorp, W. J., Pajkrt, E., Timmermans, D. R., Holtkamp, K. C., & Henneman, L. (2014). Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening. European Journal of Human Genetics, 22(12), 1345–1350.

    Article  PubMed  PubMed Central  Google Scholar 

  65. Wilson, K. L., Czerwinski, J. L., Hoskovec, J. M., Noblin, S. J., Sullivan, C. M., Harbison, A., & Singletary, C. N. (2013). NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. Journal of Genetic Counseling, 22(1), 4–15.

    CAS  Article  PubMed  Google Scholar 

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Acknowledgments

Funding support for this study was provided by NIH/NHGRI grants P50HG003389 and R00HG006452. The authors gratefully acknowledge institutional support from the Stanford University Center for Biomedical Ethics; the Institute for Health and Aging at the University of California, San Francisco; and the Biomedical Ethics Research Program at the Mayo Clinic.

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Correspondence to Marsha Michie.

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Erin Floyd, Megan A. Allyse, and Marsha Michie declare that they have no conflict of interest.

Ethical Standards

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 participants for being included in the study.

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

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Floyd, E., Allyse, M.A. & Michie, M. Spanish- and English-Speaking Pregnant Women’s Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections. J Genet Counsel 25, 965–977 (2016). https://doi.org/10.1007/s10897-015-9928-3

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Keywords

  • cfDNA
  • cfDNA screening
  • NIPT
  • NIPS
  • Spanish-speakers
  • Latinas
  • Ethics
  • Prenatal screening