Abstract
This study seeks to inform clinical application of cell-free fetal DNA (cffDNA) screening as a novel method for prenatal trisomy detection by investigating public attitudes towards this technology and demographic and experiential characteristics related to these attitudes. Two versions of a 25-item survey assessing interest in cffDNA and existing first-trimester combined screening for either trisomy 13 and 18 or trisomy 21 were distributed among 3,164 members of the United States public. Logistic regression was performed to determine variables predictive of interest in screening options. Approximately 47 % of respondents expressed an interest in cffDNA screening for trisomy 13, 18, and 21, with a majority interested in cffDNA screening as a stand-alone technique. A significantly greater percent would consider termination of pregnancy following a diagnosis of trisomy 13 or 18 (52 %) over one of trisomy 21 (44 %). Willingness to consider abortion of an affected pregnancy was the strongest correlate to interest in both cffDNA and first-trimester combined screening, although markedly more respondents expressed an interest in some form of screening (69 % and 71 %, respectively) than would consider termination. Greater educational attainment, higher income, and insurance coverage predicted interest in cffDNA screening; stronger religious identification also corresponded to decreased interest. Prior experience with disability and genetic testing was associated with increased interest in cffDNA screening. Several of these factors, in addition to advanced age and Asian race, were, in turn, predictive of respondents’ increased willingness to consider post-diagnosis termination of pregnancy. In conclusion, divergent attitudes towards cffDNA screening—and prenatal options more generally – appear correlated with individual socioeconomic and religious backgrounds and experiences with disability and genetic testing. Clinical implementation and counseling for novel prenatal technologies should take these diverse stakeholder values into consideration.
Similar content being viewed by others
References
Allyse, M, Sayres, LC, Goodspeed, TA, & Cho, MK. (2013). Attitudes towards non-invasive prenatal testing for aneuploidy among United States adults of reproductive age. Journal of Perinatology. doi:10.1038/jp.2014.30.
Benn, P. A., & Chapman, A. R. (2009). Practical and ethical considerations of noninvasive prenatal diagnosis. JAMA, 301(20), 2154–2156. doi:10.1001/jama.2009.707.
Benn, P. A., & Chapman, A. R. (2010). Ethical challenges in providing noninvasive prenatal diagnosis. Current Opinion in Obstetrics & Gynecology, 22(2), 128–134. doi:10.1097/GCO.0b013e3283372352.
Benn, P., Borrell, A., Cuckle, H., Dugoff, L., Gross, S., Johnson, J., et al. (2011). Prenatal detection of Down syndrome using massively parallel sequencing (MPS): A rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis. from http://www.ispdhome.org/public/news/2011/ISPD_RapidResponse_MPS_24Oct11.pdf
Bianchi, D. W., Sehnert, A. J., & Rava, R. P. (2012). Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics and Gynecology, 119(6), 1270–1271. doi:10.1097/AOG.0b013e318258c419.
Case, A. P., Ramadhani, T. A., Canfield, M. A., & Wicklund, C. A. (2007). Awareness and attitudes regarding prenatal testing among Texas women of childbearing age. Journal of Genetic Counseling, 16(5), 655–661. doi:10.1007/s10897-007-9103-6.
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. doi:10.1002/pd.4125.
Choi, H., Van Riper, M., & Thoyre, S. (2012). Decision making following a prenatal diagnosis of Down syndrome: an integrative review. Journal of Midwifery & Women’s Health, 57(2), 156–164. doi:10.1111/j.1542-2011.2011.00109.x.
Committee opinion number 545: Noninvasive prenatal testing for fetal aneuploidy. (2012). Obstetrics and gynecology, 120(6), 1532–1534. doi: 10.1097/01.AOG.0000423819.85283.f4
Devers, P. L., Cronister, A., Ormond, K. E., Facio, F., Brasington, C. K., & Flodman, P. (2012). Noninvasive prenatal testing/noninvasive prenatal diagnosis: The position of the National Society of Genetic Counselors. from http://www.nsgc.org/Portals/0/Advocacy/NSGC%20Noninvasive%20Prenatal%20Testing%204-17-2012.pdf.
Dormandy, E., Michie, S., Hooper, R., & Marteau, T. M. (2005). Low uptake of prenatal screening for Down syndrome in minority ethnic groups and socially deprived groups: a reflection of women’s attitudes or a failure to facilitate informed choices? International Journal of Epidemiology, 34(2), 346–352. doi:10.1093/ije/dyi021.
Drugan, A., Greb, A., Johnson, M. P., Krivchenia, E. L., Uhlmann, W. R., Moghissi, K. S., et al. (1990). Determinants of parental decisions to abort for chromosome abnormalities. Prenatal Diagnosis, 10(8), 483–490.
Garcia, E., Timmermans, D. R., & van Leeuwen, E. (2008a). The impact of ethical beliefs on decisions about prenatal screening tests: searching for justification. Social Science and Medicine, 66(3), 753–764. doi:10.1016/j.socscimed.2007.10.010.
Garcia, E., Timmermans, D. R., & van Leeuwen, E. (2008b). Rethinking autonomy in the context of prenatal screening decision-making. Prenatal Diagnosis, 28(2), 115–120. doi:10.1002/pd.1920.
Greely, H. T. (2011). Get ready for the flood of fetal gene screening. Nature, 469(7330), 289–291. doi:10.1038/469289a.
Heger, M. (2012). Sequenom sees steady growth of MaterniT21 test despite competition, GenomeWeb. Retrieved from http://www.genomeweb.com/sequencing/sequenom-sees-steady-growth-maternit21-test-despite-competition.
Heger, M. (2013). Facing increased competition, sequenom sees continued growth of MaterniT21 test in Q4 2012, GenomeWeb. Retrieved from http://www.genomeweb.com/sequencing/facing-increased-competition-sequenom-sees-continued-growth-maternit21-test-q4-2.
Kaback, M. M. (2000). Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. European Journal of Pediatrics, 159(Suppl 3), S192–S195.
Kelly, S. E., & Farrimond, H. R. (2012). Non-invasive prenatal genetic testing: a study of public attitudes. Public Health Genomics, 15(2), 73–81. doi:10.1159/000331254.
Kent, A. (2008). Non-invasive prenatal diagnosis: public and patient perceptions. Seminars in Fetal & Neonatal Medicine, 13(2), 109–112. doi:10.1016/j.siny.2007.12.009.
Kitzman, J. O., Snyder, M. W., Ventura, M., Lewis, A. P., Qiu, R., Simmons, L. E., et al. (2012). Noninvasive whole-genome sequencing of a human fetus. Science Translational Medicine, 4(137), 137–176. doi:10.1126/scitranslmed.3004323.
Kooij, L., Tymstra, T., & Berg, P. (2009). The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA. Prenatal Diagnosis, 29(2), 164–168. doi:10.1002/pd.2205.
Kramer, R. L., Jarve, R. K., Yaron, Y., Johnson, M. P., Lampinen, J., Kasperski, S. B., et al. (1998). Determinants of parental decisions after the prenatal diagnosis of Down syndrome. American Journal of Medical Genetics, 79(3), 172–174.
Kuppermann, M., Gates, E., & Washington, A. E. (1996). Racial-ethnic differences in prenatal diagnostic test use and outcomes: preferences, socioeconomics, or patient knowledge? Obstetrics and Gynecology, 87(5 Pt 1), 675–682.
Kuppermann, M., Nakagawa, S., Cohen, S. R., Dominguez-Pareto, I., Shaffer, B. L., & Holloway, S. D. (2011). Attitudes toward prenatal testing and pregnancy termination among a diverse population of parents of children with intellectual disabilities. Prenatal Diagnosis, 31(13), 1251–1258. doi:10.1002/pd.2880.
Lewis, C., Hill, M., Skirton, H., & Chitty, L. S. (2012). Fetal sex determination using cell-free fetal DNA: service users’ experiences of and preferences for service delivery. Prenatal diagnosis, 1–7. doi: 10.1002/pd.3893
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. doi:10.1159/000353523.
Lo, Y. M., & Chiu, R. W. (2012). Genomic analysis of fetal nucleic acids in maternal blood. Annual Review of Genomics and Human Genetics, 13, 285–306. doi:10.1146/annurev-genom-090711-163806.
Malone, F. D., Canick, J. A., Ball, R. H., Nyberg, D. A., Comstock, C. H., & Bukowski, R. (2005). First-trimester or second-trimester screening, or both, for Down’s syndrome. New England Journal of Medicine, 353(19), 2001–2011. doi:10.1056/NEJMoa043693.
Markens, S., Browner, C. H., & Press, N. (1999). ‘Because of the risks’: how US pregnant women account for refusing prenatal screening. Social Science & Medicine, 49(3), 359–369.
Natoli, J. L., Ackerman, D. L., McDermott, S., & Edwards, J. G. (2012). Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011). Prenatal Diagnosis, 32(2), 142–153. doi:10.1002/pd.2910.
Olney, R. S., Moore, C. A., Khoury, M. J., Erickson, J. D., Edmonds, L. D., Botto, L. D., et al. (1995). Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. Morbidity and Mortality Weekly Report. Recommendations and Reports, 44(RR-9), 1–12.
Palomaki, G. E., Knight, G. J., McCarthy, J. E., Haddow, J. E., & Donhowe, J. M. (1997). Maternal serum screening for Down syndrome in the United States: a 1995 survey. American Journal of Obstetrics and Gynecology, 176(5), 1046–1051.
Parens, E., & Asch, A. (2000). Prenatal testing and disability rights. Washington, D.C.: Georgetown University Press.
Peters, D., Chu, T., Yatsenko, S. A., Hendrix, N., Hogge, W. A., Surti, U., et al. (2011). Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. The New England Journal of Medicine, 365(19), 1847–1848. doi:10.1056/NEJMc1106975.
Poon, C., Ng, W., Kou, K., Lau, B., Ma, T., & Leung, K. (2013). Impact of introduction of non-invasive prenatal testing in private on the uptake of prenatal testing for Down syndrome in a public hospital. Ultrasound in Obstetrics & Gynecology, 42(s1), 130.
Press, N., & Browner, C. H. (1997). Why women say yes to prenatal diagnosis. Social Science & Medicine, 45(7), 979–989.
Rapp, R. (1998). Refusing prenatal diagnosis: the meanings of bioscience in a multicultural world. Science, Technology & Human Values, 23(1), 45–70.
Rasmussen, S. A., Wong, L. Y., Yang, Q., May, K. M., & Friedman, J. M. (2003). Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics, 111(4 Pt 1), 777–784.
Sayres, L. C., Allyse, M., Norton, M. E., & Cho, M. K. (2011). Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenatal Diagnosis. doi:10.1002/pd.2835.
Suter, S. M. (2002). The routinization of prenatal testing. American Journal of Law and Medicine, 28(2–3), 233–270.
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. doi:10.1002/pd.2888.
Yi, H., Hallowell, N., Griffiths, S., & Yeung Leung, T. (2013). Motivations for undertaking DNA sequencing-based non-invasive prenatal testing for fetal aneuploidy: a qualitative study with early adopter patients in Hong Kong. PLoS One, 8(11), e81794. doi:10.1371/journal.pone.0081794.
Yotsumoto, J., Sekizawa, A., Koide, K., Purwosunu, Y., Ichizuka, K., Matsuoka, R., et al. (2012). Attitudes toward non-invasive prenatal diagnosis among pregnant women and health professionals in Japan. Prenatal diagnosis, 1–6. doi: 10.1002/pd.3886.
Zamerowski, S. T., Lumley, M. A., Arreola, R. A., Dukes, K., & Sullivan, L. (2001). Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 3(4), 301–309.
Acknowledgments
All authors are supported by NIH grant P50-HG003389 (Center for Integrating Ethics and Genetic Research). Dr. Cho is additionally supported by NIH grant 1-U54-RR024374-01A1 (Stanford Center for Clinical and Translational Education and Research). We thank the Division of Biostatistics within the Stanford University School of Medicine Department of Health Research and Policy for their guidance in analyzing this data.
Conflict of Interest
None of the authors has a conflict of interest of a financial or other nature. Authors have full control of all primary data and agree to allow the journal to review our data upon request.
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).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sayres, L.C., Allyse, M., Goodspeed, T.A. et al. Demographic and Experiential Correlates of Public Attitudes Towards Cell-Free Fetal DNA Screening. J Genet Counsel 23, 957–967 (2014). https://doi.org/10.1007/s10897-014-9704-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-014-9704-9