Maternal Serum Cell-Free Fetal DNA

Research Overview:

Using cell-free fetal DNA from maternal blood samples, genetic researchers have succeeded in detecting fetal genetic traits, including sex, RhD blood type, aneuploidy, and single-gene mutations; detection of wide-ranging fetal conditions appears limitless with this rapidly advancing technology. Cell-free fetal DNA testing, which is non-invasive and may be conducted as early as five weeks into pregnancy, has the potential to revolutionize prenatal genetic testing. Depending on accuracy, throughput, and costs, these tests may theoretically replace existing screening procedures and/or the riskier diagnostic procedures of amniocentesis and chorionic villus sampling.

Significant ethical, legal, and social issues may arise with noninvasive prenatal testing of genetic disorders, especially those with cognitive or behavioral components. This project seeks to elucidate these concerns through the lens of those with a stake in this technology. For example, stakeholder analysis may include interviews with researchers and developers to gain an understanding of the capabilities of the technology and its future directions. Other stakeholders who will be surveyed include prospective patients, health care providers and genetic counselors, legal and regulatory experts, third-party payer representatives, and advocacy communities such as leaders in disability rights. The ultimate goal of this project will be to provide an empirical basis for priorities, values, and risk perceptions surrounding this technology and its potential uses, in order to reach conclusions that appeal to the interests of all stakeholders.


Cho MK, Sayres L, Nunes M, Kelly S, King J. Conceiving future generations: ethical, legal, social issues surrounding non-invasive prenatal genetic testing, in ELSI Congress. 2011: Chapel Hill, NC.


  • Allyse M, Sayres LC, King JS, Norton ME, Cho MK. (2012) Cell-free fetal DNA testing for fetal aneuploidy and beyond: Clinical integration challenges in the United States context. Human Reproduction.
  • Sayres LC, Allyse M, Goodspeed T, Cho MK.(2012) In the Public Interest? Science Translational Medicine. 4 (144), 144.
  • King JS. (2012) And Genetic Testing For All...The Coming Revolution in Non-Invasive Prenatal Genetic Testing 42 Rutgers L. Rev.
  • Sayres LC, Allyse M & Cho, MK. (2012) Integrating stakeholder perspectives into the translation of cell-free fetal DNA testing for aneuploidy. Genome Medicine. 4 (6), 49. 
  • Sayres LC, Allyse M, Norton ME, Cho MK. Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenatal Diagnosis 2011, epub ahead of print: DOI: 10.1002/pd.2835.
  • Sayres, LC & Cho, MK.  (2011) Cell-free fetal nucleic acid testing: A review of the technology and its applications. Obstetrical & Gynecological Survey 66:431-442.
  • Tischler R, Hudgins L, Blumenfeld YJ, Greely H, Ormond KE. (2011) “Noninvasive Prenatal Diagnosis: Pregnant Women’s Interest and Expected Uptake.”   Prenatal Diagnosis.
  • Greely, HT. (2011) Get ready for the flood of fetal gene screening.  Nature 469: 289-291.
  • Greely HT and King, JS (2010) The coming revolution in prenatal genetic testing.  AAAS Professional Ethics Report 22:1.

Research Personnel

Dr. Marsha Michie, CIRGE Post-Doctoral Fellow (former)
Stephanie Alessi, CIRGE Post-Doctoral Fellow