Advertisement

Journal of Genetic Counseling

, Volume 23, Issue 3, pp 377–400 | Cite as

Genetic Counselors’ Experience with Cell-Free Fetal DNA Testing as a Prenatal Screening Option for Aneuploidy

  • Julie M. H. Horsting
  • Stephen R. Dlouhy
  • Katelyn Hanson
  • Kimberly Quaid
  • Shaochun Bai
  • Karrie A. Hines
Original Research

Abstract

First identified in 1997, cell-free fetal DNA (cffDNA) has just recently been used to detect fetal aneuploidy of chromosomes 13, 18, and 21, showing its potential to revolutionize prenatal genetic testing as a non-invasive screening tool. Although this technological advancement is exciting and has certain medical applications, it has been unclear how it will be implemented in a clinical setting. Genetic counselors will likely be instrumental in answering that question, but to date, there is no published research regarding prenatal counselors’ implementation of and experiences with cffDNA testing. We developed a 67 question survey to gather descriptive information from counselors regarding their personal opinions, experiences, thoughts, and concerns regarding the validity, usefulness, and implementation of this new technology. A total of 236 individuals completed a portion of the survey; not all respondents answered all questions. Qualitative questions complemented quantitative survey items, allowing respondents to voice their thoughts directly. Results indicate that counselors value cffDNA testing as a screening option but are concerned regarding how some obstetricians and patients make use of this testing. Further results, discussion, and practice implications are presented.

Keywords

Cell-free fetal DNA Non-invasive prenatal testing Genetic counseling Prenatal Screening Aneuploidy 

Notes

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 respondents for their insightful comments.

Conflict of Interest

Authors Julie M. H. Horsting, Stephen R. Dlouhy, Katelyn Hanson, Kimberly Quaid, Shaochun Bai, and Karrie A. Hines declare they have no conflict of interest.

References

  1. American College of Obstetricians and Gynecologists. (2012). Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. Obstetrics and Gynecology, 120, 1532–1534.CrossRefGoogle Scholar
  2. Benn, P., Cuckle, H., & Pergament, E. (2013). Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound in Obstetrics and Gynecology. doi: 10.1002/uog.12513.PubMedGoogle Scholar
  3. Bensend, T. A., Veach, P. M., & Niendorf, K. B. (2013). What’s the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. Journal of Genetic Counseling. doi: 10.1007/s10897-013-9605-3.Google Scholar
  4. 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. MatErnal Blood Is Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Obstetrics and Gynecology, 119, 890–901.PubMedCrossRefGoogle Scholar
  5. Chen, E. Z., Chiu, R. W., SUN, H., Akolekar, R., Chan, K. C., Leung, T. Y., et al. (2011). Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE, 6, e21791.PubMedCentralPubMedCrossRefGoogle Scholar
  6. Chiu, R. W., Akolekar, R., Zheng, Y. W., LeungTY, S. H., Chan, K. C., et al. (2011). Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study. BMJ, 342, c7401.PubMedCentralPubMedCrossRefGoogle Scholar
  7. 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. Journal of Genetic Counseling. doi: 10.1007/s10897-012-9564-0.PubMedGoogle Scholar
  8. Ehrich, M., Deciu, C., Zwiefelhofer, T., Tynan, J. A., Cagasan, L., Tim, R., et al. (2011). Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. American Journal of Obstetrics and Gynecology, 204, 205.e1–11.CrossRefGoogle Scholar
  9. Hall, A. L., Drendel, H. M., Verbrugge, J. L., Reese, A. M., Schumacher, K. L., Griffith, C. B., et al. (2013). Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genetics in Medicine. doi: 10.1038/gim.2013.26.Google Scholar
  10. 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, 485–487.PubMedCrossRefGoogle Scholar
  11. McPherson, E., Thomas, G. D., Manlick, C., Zaleski, C. A., Reynolds, K. K., Rasmussen, K., et al. (2011). Extreme values of maternal serum analytes in second trimester screening: Looking beyond trisomy and NTD’s. Journal of Genetic Counseling, 20, 396–403.PubMedCrossRefGoogle Scholar
  12. Mennuti, M. T., Cherry, A. M., Morrissette, J. J., & Dugoff, L. (2013). Is it time to sound an alarm about false positive cell-free DNA testing for fetal aneuploidy? American Journal of Obstetrics and Gynecology. doi: 10.1016/j.ajog.2013.03.027.PubMedGoogle Scholar
  13. Musci, T. J., Fairbrother, G., Batey, A., Bruursema, J., Struble, C., & Song, K. (2013). Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice. Prenatal Diagnosis, 33(5), 424–428.PubMedCrossRefGoogle Scholar
  14. Norton, M. E., Brar, H., Meiss, J., Karimi, A., Laurent, L. C., Caughey, A. B., et al. (2012). Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter, prospective, cohort study for detection of fetal trisomy 18. American Journal of Obstetrics and Gynecology, 207(2), 137.e1–137.e8.CrossRefGoogle Scholar
  15. Norton, M. E., Rose, N. C., & Benn, P. (2013). Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint. Obstetrics and Gynecology, 121(4), 847–850.PubMedCrossRefGoogle Scholar
  16. 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, 913–920.PubMedCrossRefGoogle Scholar
  17. 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, 296–305.PubMedCentralPubMedCrossRefGoogle Scholar
  18. Patton, M. Q. (2001). Qualitative evaluation and research methods. Thousand Oaks: Sage.Google Scholar
  19. Sayres, L., Allyse, M., Norton, M., & Cho, M. (2011). Cell-free fetal DNA testing: A pilot study of obstetric healthcare provider attitudes towards clinical implementation. Prenatal Diagnosis, 31(11), 1070–1076.PubMedCentralPubMedCrossRefGoogle Scholar
  20. Sparks, A. B., Wang, E. T., Struble, C. A., Barrett, W., Stolowski, R., McBride, C., et al. (2012). Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenatal Diagnosis, 32, 3–9.PubMedCentralPubMedCrossRefGoogle Scholar
  21. Taylor, J.B., Chock, V.Y., Hudgins, L. (2013). NIPT in a clinical setting: an analysis of uptake in the first months of clinical availability. Journal of Genetic Counseling [Epub ahead of print].Google Scholar
  22. Vahanian, S.A., Baraa, A.M., Yeh, C., Chavez, M.R., Kinzler, W.L., Vintzileos, A.M. (2013). Patient acceptance of non-invasive testing for fetal aneuploidy via cell-free fetal DNA. Journal of Maternal-Fetal and Neonatal Medicine. PMID: 23687914.Google Scholar
  23. Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., et al. (2012). Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England Journal of Medicine, 367(23), 2175–2184.PubMedCentralPubMedCrossRefGoogle Scholar
  24. Wright, C. F., & Burton, H. (2009). The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Human Reproduction Update, 15(1), 139–151.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Julie M. H. Horsting
    • 1
    • 3
  • Stephen R. Dlouhy
    • 1
  • Katelyn Hanson
    • 1
  • Kimberly Quaid
    • 1
  • Shaochun Bai
    • 1
  • Karrie A. Hines
    • 2
  1. 1.Department of Medical and Molecular GeneticsIndiana UniversityIndianapolisUSA
  2. 2.Division of Maternal Fetal MedicineIndiana University HealthIndianapolisUSA
  3. 3.Department of Medical and Molecular Genetics, Indiana University School of MedicineIndianapolisUSA

Personalised recommendations