Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment

ABSTRACT 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. What's already known about this topic? Noninvasive prenatal testing by analysis of cell‐free DNA has the potential to accurately diagnose common fetal aneuploidies, although how best to use this test in the context of other available prenatal tests has not yet been determined. What does this study add? This study critically assesses the published literature on the use of maternal plasma DNA sequencing for fetal aneuploidy detection and compares it with the established alternatives. Finally, it provides guidelines for evidence‐based use of maternal plasma DNA sequencing for the detection of fetal aneuploidy