Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation.

Journal Article (Journal Article;Review)

Screening for fetal aneuploidy in pregnant women using cell-free DNA has increased dramatically since the technology became commercially available in 2011. Since that time, numerous trials have demonstrated high sensitivity and specificity to screen for common aneuploidies in high-risk populations. Studies assessing the performance of these tests in low-risk populations have also demonstrated improved detection rates compared with traditional, serum-based screening strategies. Concurrent with the increased use of this technology has been a decrease in invasive procedures (amniocentesis and chorionic villus sampling). As the technology becomes more widely understood, available, and utilized, challenges regarding its clinical implementation have become apparent. Some of these challenges include test failures, false-positive and false-negative results, limitations in positive predictive value in low-prevalence populations, and potential maternal health implications of abnormal results. In addition, commercial laboratories are expanding screening beyond common aneuploidies to include microdeletion screening and whole genome screening. This review article is intended to provide the practicing obstetrician with a summary of the complexities of cell-free DNA screening and the challenges of implementing it in the clinical setting.

Full Text

Duke Authors

Cited Authors

  • Grace, MR; Hardisty, E; Dotters-Katz, SK; Vora, NL; Kuller, JA

Published Date

  • August 2016

Published In

Volume / Issue

  • 71 / 8

Start / End Page

  • 477 - 487

PubMed ID

  • 27526871

Pubmed Central ID

  • PMC5548289

Electronic International Standard Serial Number (EISSN)

  • 1533-9866

Digital Object Identifier (DOI)

  • 10.1097/OGX.0000000000000342


  • eng

Conference Location

  • United States