Related Experiment Video
Updated: Nov 16, 2025
09:30
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
3.3K
A Paradigm Shift: Considerations in Prenatal Cell-Free DNA Screening
Jennifer N Dines1, Ashley M Eckel2, Edith Y Cheng1,3
1Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA.
The Journal of Applied Laboratory Medicine
|February 27, 2021
Summary
Cell-free DNA (cfDNA) screening offers high detection rates and low false positives for fetal aneuploidies. This noninvasive prenatal screening method is becoming routine for high-risk pregnancies and shows promise for broader application.
Area of Science:
- Genetics
- Obstetrics
- Molecular Biology
Background:
- Prenatal screening for fetal aneuploidies has evolved significantly since the 1970s, with cell-free DNA (cfDNA) screening revolutionizing the field in 2011.
- cfDNA screening, also known as noninvasive prenatal screening, offers a major advancement over traditional methods like amniocentesis and maternal serum screening.
Purpose of the Study:
- To review the clinical performance and implementation of cfDNA prenatal screening.
- To discuss the biological, preanalytical, and analytical factors influencing cfDNA test accuracy.
Main Methods:
- Review of established clinical performance data for cfDNA screening.
- Analysis of factors affecting test performance, including biological and technical aspects.
Main Results:
- cfDNA screening demonstrates high detection rates (>90%) for common autosomal and sex chromosome aneuploidies.
- The false-positive rate for cfDNA screening is significantly reduced (<0.5%) compared to maternal serum screening.
Conclusions:
- cfDNA prenatal screening for whole chromosome aneuploidies is now standard practice in high-risk obstetric populations.
- Expansion of cfDNA screening to the general obstetric population is feasible and effective, pending economic and quality control considerations.
