Related Experiment Video
Updated: Jul 5, 2025
09:30
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
3.1K
Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing
Weihua Zhao1, Yanyan Song2, Chuanfeng Huang3
1Department of Obstetrics, Shenzhen Second People's Hospital/the First Affiliated Hospital of Shenzhen University Health, Shenzhen, Guangdong, China.
BMC Medical Genomics
|January 23, 2024
Summary
New reference materials for preimplantation genetic testing for monogenic disorders (PGT-M) targeting thalassemia have been developed. These validated materials ensure accurate genetic testing for inherited blood disorders, improving clinical outcomes.
Area of Science:
- Reproductive Genetics
- Molecular Diagnostics
Background:
- Preimplantation genetic testing for monogenic disorders (PGT-M) is crucial for detecting serious inherited conditions.
- A significant gap exists in validated reference materials (RMs) for PGT-M development and quality control.
Purpose of the Study:
- To establish and validate novel reference materials for PGT-M specifically for thalassemia.
- To ensure the accuracy and reliability of PGT-M testing for monogenic disorders.
Main Methods:
- Developed 16 thalassemia cell lines (12 DNA, 4 simulated embryos) from four families.
- Utilized next-generation sequencing for genotyping and haplotype analysis.
- Assessed RM stability through freeze-thaw cycles and long-term storage.
Main Results:
- Successfully established PGT-M reference materials for thalassemia.
- Achieved concordant genotype and haplotype results across four accredited genetics laboratories.
- Demonstrated long-term stability of the reference materials for over 3 years.
Conclusions:
- The developed PGT-M reference materials for thalassemia aid in standardizing PGT-M testing.
- These materials enhance the accuracy and reliability of PGT-M in clinical applications.
- Facilitates improved genetic screening for inherited blood disorders.
