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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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Cost-effective and flexible preimplantation genetic testing (PGT) by nanopore adaptive sampling
Zhiqiang Zhang1,2,3, Shujing He1,2,3, Taoli Ding4
1Reproductive Medicine Center, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, 510655, China.
Journal of Nanobiotechnology
|December 9, 2025
Summary
Nanopore adaptive sampling offers a cost-effective preimplantation genetic testing (PGT) solution. This method accurately identifies mutations and facilitates haplotype linkage analysis, proving beneficial for cases with incomplete genetic data and de novo mutations.
Area of Science:
- Genetics and Genomics
- Reproductive Medicine
- Bioinformatics
Background:
- Genetic diseases arise from DNA variations, necessitating strategies like preimplantation genetic testing (PGT) to prevent transmission.
- Traditional PGT relies on extensive pedigree data, limiting its application in cases with incomplete familial genetic information or de novo mutations.
- Third-generation sequencing (TGS) offers advantages but faces cost barriers, driving the need for more economical PGT approaches.
Purpose of the Study:
- To evaluate nanopore adaptive sampling as a cost-effective and accurate method for preimplantation genetic testing (PGT).
- To demonstrate the utility of nanopore adaptive sampling in identifying mutations and performing haplotype linkage analysis, particularly in challenging cases.
- To provide proof-of-principle for the clinical application of nanopore adaptive sampling in assisted reproduction.
Main Methods:
- Employed low-coverage short-read next-generation sequencing (NGS), microarray analysis, and nanopore adaptive sampling.
- Analyzed samples from couples with balanced translocations, HBB gene mutations, and monogenic diseases (PKD1, ASNS, ALPL).
- Utilized nanopore adaptive sampling for mutation detection and haplotype linkage analysis.
Main Results:
- Nanopore adaptive sampling successfully identified various mutations and facilitated accurate haplotype linkage analysis.
- The method proved reliable, even with incomplete pedigree information and for de novo mutations.
- Successful embryo transfers and subsequent prenatal diagnoses confirmed the clinical potential of this approach.
Conclusions:
- Nanopore adaptive sampling is a promising, cost-effective tool for preimplantation genetic testing (PGT).
- It offers significant advantages over traditional PGT methods, especially for complex genetic scenarios and incomplete pedigrees.
- This study provides preliminary evidence supporting the broader clinical application of nanopore adaptive sampling in assisted reproduction.
