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


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.


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



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.


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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

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