Related Experiment Video
Updated: Aug 29, 2025
09:30
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
3.2K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Chengming Xu1, Riqing Wei2, Hui Lin1
1Centre for Women, Children, and Reproduction, Guangxi Key Laboratory of Metabolic Diseases Research.
Journal of Visualized Experiments : Jove
|September 5, 2022
Summary
This study details a semiconductor-based next-generation sequencing (NGS) method for pre-implantation genetic testing, offering a comprehensive approach to detect genetic variants and aneuploidy in Trophectoderm cells with high resolution.
Area of Science:
- Genetics
- Reproductive Medicine
- Molecular Biology
Background:
- Next-generation sequencing (NGS) is crucial for clinical genetic variant determination.
- Pre-implantation genetic testing (PGT) benefits from NGS's scalability, throughput, and cost-effectiveness.
- Aneuploidy analysis in PGT requires precise detection of genetic variations.
Purpose of the Study:
- To present a semiconductor-based NGS system for PGT.
- To detail a comprehensive approach for detecting structural genetic variants.
- To provide visual guidance for critical procedural steps in PGT.
Main Methods:
- Whole Genome Amplification (WGA) of biopsied Trophectoderm (TE) cells.
- Genomic library construction and sequencer management.
- Analysis of copy number variants (CNVs) and aneuploidy.
Main Results:
- The NGS system achieves a minimum resolution of 8 Mb for structural variant detection.
- Detailed procedural steps are crucial for accurate amplification, library quality, and data output.
- The method enables comprehensive aneuploidy analysis.
Conclusions:
- The described NGS method provides a robust platform for PGT.
- Visual demonstrations enhance understanding and execution of critical PGT steps.
- This approach improves the accuracy and efficiency of genetic testing in embryos.
