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Cell-Free Fetal Nucleic Acid Testing: A Review of the Technology and Its Applications

Sayres, Lauren C. BA*; Cho, Mildred K. PhD

Obstetrical & Gynecological Survey: July 2011 - Volume 66 - Issue 7 - p 431-442
doi: 10.1097/OGX.0b013e31822dfbe2
CME Program: CME Review Article 19

Cell-free fetal nucleic acids circulating in the blood of pregnant women afford the opportunity for early, noninvasive prenatal genetic testing. The predominance of admixed maternal genetic material in circulation demands innovative means for identification and analysis of cell-free fetal DNA and RNA. Techniques using polymerase chain reaction, mass spectrometry, and sequencing have been developed for the purposes of detecting fetal-specific sequences, such as paternally inherited or de novo mutations, or determining allelic balance or chromosome dosage. Clinical applications of these methods include fetal sex determination and blood group typing, which are currently available commercially although not offered routinely in the United States. Other uses of cell-free fetal DNA and RNA being explored are the detection of single-gene disorders, chromosomal abnormalities, and inheritance of parental polymorphisms across the whole fetal genome. The concentration of cell-free fetal DNA may also provide predictive capabilities for pregnancy-associated complications. The roles that cell-free fetal nucleic acid testing assume in the existing framework of prenatal screening and invasive diagnostic testing will depend on factors such as costs, clinical validity and utility, and perceived benefit-risk ratios for different applications. As cell-free fetal DNA and RNA testing continues to be developed and translated, significant ethical, legal, and social questions will arise that will need to be addressed by those with a stake in the use of this technology.

Target Audience: Obstetricians & Gynecologists and Family Physicians

Learning Objectives: After participating in this activity, physicians should be better able to evaluate techniques and tools for analyzing cell-free fetal nucleic acids, assess clinical applications of prenatal testing, using cell-free fetal nucleic acids and barriers to implementation, and distinguish between relevant clinical features of cell-free fetal nucleic acid testing and existing prenatal genetic screening and diagnostic procedures.

*Reseach Fellow, Stanford Center for Biomedical Ethics, and †Professor, Stanford Center for Biomedical Ethics, Department of Pediatrics, Division of Genetics, Stanford University, Stanford, CA

Chief Editor's Note: This article is part of a series of continuing education activities in this Journal through which a total of 36 AMA/PRA Category 1 Credits™ can be earned in 2011. Instructions for how CME credits can be earned appear on the last page of the Table of Contents.

The authors, faculty and staff in a position to control the content of this CME activity and their spouses/life partners (if any) have disclosed that they have no financial relationships with, or financial interest in, any commercial organizations pertaining to this educational activity.

Supported by NIH grant P50 HG003389 (Center for Integrating Ethics and Genetic Research).

Correspondence requests to: Lauren C. Sayres, 1215 Welch Rd Modular A, Stanford, CA 94301. E-mail:

© 2011 Lippincott Williams & Wilkins, Inc.