Related Experiment Video
Updated: May 13, 2026
09:03
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma
Taylor J Jensen1, Tricia Zwiefelhofer, Roger C Tim
1Research and Development, Sequenom Center for Molecular Medicine, San Diego, CA, USA.
Plos One
|March 14, 2013
Summary
This study optimized circulating cell-free (ccf) fetal DNA analysis for aneuploidy detection. Enhanced methods improve efficiency and accuracy for prenatal screening, offering reliable results for trisomies 21, 18, and 13.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- Circulating cell-free (ccf) fetal DNA in maternal plasma is a key target for non-invasive prenatal testing.
- Next-generation sequencing (NGS) enables sensitive detection of fetal aneuploidies.
Purpose of the Study:
- To enhance the efficiency and throughput of ccf DNA analysis for fetal aneuploidy detection.
- To assess semi-automated library preparation and increased sample multiplexing.
- To improve bioinformatic tools for higher-throughput, accurate prenatal screening.
Main Methods:
- Plasma DNA extraction from maternal blood samples.
- Semi-automated library preparation and 12-plex sequencing on Illumina HiSeq2000.
- Bioinformatic analysis using z-scores for aneuploidy classification.
Main Results:
- Evaluation of over 1900 samples for assay development and optimization.
- Clinical validation on 1269 samples demonstrated high accuracy.
- Extremely low false positive rates: 0.09% (T21), <0.01% (T18), 0.08% (T13).
Conclusions:
- Developed laboratory methods and bioinformatic approaches increase sample throughput.
- High classification accuracy is maintained with the optimized assay.
- This high-throughput method offers efficient and reliable prenatal screening for fetal aneuploidies.
