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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Clinical application of an Asian Screening Array-based preimplantation genetic testing workflow for various genetic
Cuiting Peng1,2, Jun Ren1,2, Fan Zhou1,2
1Department of Medical Genetics Center, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renmin South Road, Chengdu, China.
Orphanet Journal of Rare Diseases
|June 9, 2026
Summary
The Asian Screening Array (ASA) provides an efficient and reliable workflow for preimplantation genetic testing for monogenic disorders (PGT-M). This ASA-based approach enhances accuracy in detecting genetic disorders, offering a standardized solution for clinical prevention.
Area of Science:
- Genetics and Genomics
- Reproductive Medicine
- Bioinformatics
Background:
- Preimplantation genetic testing for monogenic disorders (PGT-M) is crucial for preventing hereditary disease transmission.
- The efficacy of PGT-M relies on accurate detection platforms, with genome-wide SNP arrays like the Asian Screening Array (ASA) showing promise for haplotype analysis.
Purpose of the Study:
- To systematically evaluate the efficiency of an Asian Screening Array-based PGT workflow for various genetic disorders.
- To establish and validate combined detection strategies for PGT-M.
Main Methods:
- Retrospective analysis of 377 PGT-M preclinical cases and 367 clinical cycles (1677 embryos) using the Asian Screening Array.
- Development of combined ASA haplotyping and direct mutation detection strategies, utilizing long-read sequencing or single-sperm haplotyping for complex cases.
- Application of individualized direct mutation detection methods (Gap-PCR, RP-PCR, PCR-RFLP).
Main Results:
- The ASA-based PGT workflow demonstrated clinical validity, integrating linkage analysis, direct mutation detection, and chromosomal CNV screening.
- Sufficient SNPs were available for linkage analysis, and direct mutation detection methods validated ASA haplotyping results.
- Long-read sequencing proved more effective than single-sperm haplotyping; 636 embryos were suitable for transfer.
Conclusions:
- The study validated the feasibility and superiority of the ASA-based approach for PGT.
- A standardized and reliable technical solution was provided for the clinical prevention of diverse genetic disorders.
