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

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)377-400
Number of pages24
JournalJournal of Genetic Counseling
Issue number3
StatePublished - Jun 2014
Externally publishedYes


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

ASJC Scopus subject areas

  • Genetics(clinical)


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