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Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Noninvasive prenatal testing (NIPT) allows for highly sensitive detection of Down syndrome early in pregnancy with no risk of miscarriage, therefore potentially increasing the number of pregnancies identified with Down syndrome. This study assesses how mothers of children with Down syndrome perceive NIPT, especially the impact they think it will have on their families and other families with children who have Down syndrome. Seventy-three self-reported mothers of children with Down syndrome responded to an anonymous online survey emailed to, and posted on, message boards of various Down syndrome support groups and networks. Data analysis included chi-square tests and thematic analysis. Fifty-nine percent of respondents indicated they would use NIPT in the future; respondents who had not used prenatal testing in the past were significantly less likely to report interest in using NIPT in the future than those who had prenatal testing previously (p < .001). Many respondents felt NIPT could lead to increased terminations (88 %), increased social stigma (57 %), and decreased availability of services for individuals with Down syndrome (64 %). However, only 16 % believed availability of new noninvasive tests would be the most important factor in determining the number of pregnancies with Down syndrome terminated in the future. Additionally, 48 % believed health care providers give biased or incorrect information about Down syndrome at the time of diagnosis, and 24 % felt this incorrect information leads to terminations of pregnancies affected with Down syndrome. Results suggest although mothers of children with Down syndrome believe new noninvasive testing will lead to an increase in termination of pregnancies with Down syndrome, they do not think it is the MOST important factor. They also highlight the need to provide a diagnosis of Down syndrome in a balanced and objective manner.

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References

  • American College of Obstetricians and Gynecologists (ACOG). (2012). Committee Opinion No. 545. Noninvasive prenatal testing for fetal aneuploidy. Obstetrics and Gynecology, 120(6), 1532–1534.

    Article  Google Scholar 

  • Benn, P., Borrell, A., Cuckle, H., Dugoff, L., Gross, S., Johnson, J., et al. (2012a). 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. Prenatal Diagnosis, 32, 1–2.

    Article  PubMed  Google Scholar 

  • Benn, P., Cuckle, H., & Pergament, E. (2012b). Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly. Ultrasound in Obstetrics & Gynecology, 39(2), 127–130.

    Article  CAS  Google Scholar 

  • Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A. Z., Sehnert, A. J., & Rava, R. P. (2012). Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics and Gynecology, 119(5), 1–13.

    Article  Google Scholar 

  • Bryant, L., Hewison, J., & Green, J. (2005). Attitudes towards prenatal diagnosis and termination in women who have a sibling with Down’s syndrome. Journal of Reproductive and Infant Psychology, 23, 181–198.

    Article  Google Scholar 

  • Chiu R. W., Chan K. C., Gao Y., Lau V. Y., Zheng W., Leung T. Y., et al. (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, 20458–20463. pubmed id: 24327983.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • De Jong, A., Dondorp, W. J., de Die-Smulders, C. E. M., et al. (2010). Non-invasive prenatal testing: ethical issues explored. European Journal of Human Genetics, 18, 272–277.

    Article  PubMed  Google Scholar 

  • Dent, K. M., Harper, C., Kearney, L., Lieber, C., & Finucane, B. (2011). Embracing the unique role of genetic counselors: response to the commentary by Madeo et al. American Journal of Medical Genetics Part A, 155, 1791–1793.

    Article  Google Scholar 

  • Devers, P. L., Cronister, A., Ormond, K. E., Facio, F., Brasington, C. K., & Flodman, P. (2013). Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. Journal of Genetic Counseling, 22, 291–295.

    Article  PubMed  Google Scholar 

  • Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2008). Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proceedings of the National Academy of Sciences of the United States of America, 105(42), 16266–16271.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Farrelly, E., Cho, M. K., Erby, L., Roter, D., Stenzel, A., & Ormond, K. E. (2010). Genetic counselors and prenatal testing: where is the discussion about disability? Journal of Genetic Counseling, 19, 671.

    Google Scholar 

  • Greely, H. T. (2011). Get ready for the flood of fetal gene screening. Nature, 469, 289–291.

    Article  CAS  PubMed  Google Scholar 

  • Gregg, A., Gross, S., Best, R., Monaghan, K., Bajaj, K., Skotko, B., et al. (2013). ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genetics in Medicine, 15, 395–398.

    Article  CAS  PubMed  Google Scholar 

  • Hodgson, J., & Weil, J. (2012). Talking about disability in prenatal genetic counseling. Journal of Genetic Counseling, 21(1), 24–26.

    Article  PubMed  Google Scholar 

  • Hodgson, J., Gillam, L., Sahhar, M., & Metcalfe, S. (2010). “Testing times, challenging choices”: an Australian study of prenatal genetic counseling. Journal of Genetic Counseling, 19, 22–37.

    Article  PubMed  Google Scholar 

  • Hurford, E., Hawkins, A., Hudgins, L., & Taylor, J. (2013). The decision to continue a pregnancy affected by Down syndrome: timing of decision and satisfaction of receiving a prenatal diagnosis. Journal of Genetic Counseling. doi:https://doi.org/10.1007/s10897-013-9590-6.

    Article  PubMed  Google Scholar 

  • Inglis, A., Hippman, C., & Austin, J. (2012). Prenatal testing for down syndrome: the perspectives of parents of individuals with down syndrome. American Journal of Medical Genetics Part A, 158A, 743–750.

    Article  PubMed  PubMed Central  Google Scholar 

  • Kelly, S.E., Farrimond, H.R. (2011). Non-invasive prenatal diagnosis: A study of public attitudes. Public Health Genomics, in press.

  • Lo, Y. M., Corbetta, N., Chamberlain, P. F., Rai, V., Sargent, I. L., Redman, C. W., et al. (1997). Presence of fetal DNA in maternal plasma and serum. Lancet, 350(9076), 485–487.

    Article  CAS  PubMed  Google Scholar 

  • Madeo, A. C., Biesecker, B. B., Brasington, C., Erby, L. H., & Peters, K. F. (2011). The relationship between the genetic counseling profession and the disability community: a commentary. American Journal of Medical Genetics, 155, 1777–1785.

    Article  Google Scholar 

  • Nakata, N., Wang, Y., & Bhatt, S. (2010). Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age. Prenatal Diagnosis, 30, 198–206.

    Article  PubMed  Google Scholar 

  • Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., et al. (2011). DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genetics in Medicine, 13(11), 913–920.

    Article  CAS  PubMed  Google Scholar 

  • Palomaki, G. E., Deciu, C., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., et al. (2012). DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetics in Medicine, 14(3), 296–305.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  • Roberts, C. D., Stough, L. D., & Parrish, L. H. (2002). The role of genetic counseling in the elective termination of pregnancies involving fetuses with disabilities. Journal of Special Education, 36(1), 48–55.

    Article  PubMed  Google Scholar 

  • Sheets, K. B., Crissman, B. G., Feist, C. D., Sell, S. L., Johnson, L. R., Donahue, K. C., et al. (2011). Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 20, 432–441.

    Article  PubMed  Google Scholar 

  • Skotko, B. G. (2009). With new prenatal testing, will babies with Down syndrome slowly disappear? Archives of Disease in Childhood, 94(11), 823–826.

    Article  PubMed  Google Scholar 

  • Tischler, R., Hudgins, L., Blumenfeld, Y. J., Greely, H. T., & Ormond, K. E. (2011). Prenatal Diagnosis, 31(13), 1292–1299.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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, 32, 674–679.

    Article  PubMed  Google Scholar 

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Acknowledgments

We would like to thank the participants for their thoughtful contributions to this research, and Marcy Mamiya, who was invaluable in the identification and recruitment of study participants through the various Down syndrome networks. This research was supported by a grant from the Prenatal Special Interest Group of the National Society of Genetic Counselors.

Disclosure of interest

The authors declare no conflict of interest. The authors have full control of the primary data, and they agree to allow the journal to review their data if requested.

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Authors and Affiliations

  1. Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, H315, Stanford, CA, 94305-5208, USA

    Gregory Kellogg & Kelly Ormond

  2. Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA

    Leah Slattery & Louanne Hudgins

  3. Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, USA

    Kelly Ormond

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  1. Gregory Kellogg
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  2. Leah Slattery
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  3. Louanne Hudgins
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  4. Kelly Ormond
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Correspondence to Kelly Ormond.

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Kellogg, G., Slattery, L., Hudgins, L. et al. Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing. J Genet Counsel 23, 805–813 (2014). https://doi.org/10.1007/s10897-014-9694-7

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  • DOI: https://doi.org/10.1007/s10897-014-9694-7

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