Funding sources: The work on this project was supported by the California Technology Assessment Program.
Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment
Article first published online: 17 MAY 2013
© 2013 John Wiley & Sons, Ltd.
Special Issue: Noninvasive Prenatal Testing Using Maternal Plasma DNA: Part I
Volume 33, Issue 6, pages 514–520, June 2013
How to Cite
Walsh, J. M. E. and Goldberg, J. D. (2013), Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment. Prenat. Diagn., 33: 514–520. doi: 10.1002/pd.4109
Conflicts of interest: None declared
- Issue published online: 17 MAY 2013
- Article first published online: 17 MAY 2013
The American College of Obstetricians and Gynecologists currently recommends that all pregnant women be offered screening for chromosomal abnormalities, regardless of maternal age. Traditional screening tests have detection rates ranging from 85% to 90% and false-positive rates of 3% to 5%. A woman with an abnormal noninvasive test is offered a diagnostic test, but diagnostic tests are associated with a risk of pregnancy loss. Recently, analysis of cell-free fetal DNA (cffDNA) in maternal blood has been shown to have potential for the accurate detection of some of the common fetal autosomal aneuploidies. As part of a technology assessment for the California Technology Assessment Forum, we critically reviewed the evidence for the use of cffDNA as a prenatal screening test. We evaluated the evidence for its use as either a ‘primary’ or an ‘advanced’ screening test and for its use in screening for three different trisomies: 21, 18, and 13. We evaluated whether the use of cffDNA met established technology assessment criteria and established conclusions about evidence-based use of this new technology. © 2013 John Wiley & Sons, Ltd.