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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy.
Baoheng Gui1, Yingxin Zhang2, Bo Liang3
1Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region; Shenzhen Research Institute, The Chinese University of Hong Kong.
This study introduces a rapid, low-cost semiconductor sequencing method for preimplantation genetic testing for aneuploidy (PGT-A). This approach efficiently detects chromosomal abnormalities in embryos, improving reproductive outcomes.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- Chromosomal aneuploidy in human embryos causes developmental issues and pregnancy loss.
- Preimplantation genetic testing for aneuploidy (PGT-A) is crucial for improving reproductive success.
- Next-generation sequencing (NGS) offers a high-throughput, cost-effective method for PGT-A.
Purpose of the Study:
- To present a rapid and low-cost semiconductor sequencing-based NGS method for embryonic aneuploidy screening.
- To refine protocols for whole genome amplification and library preparation for PGT-A.
- To establish a time-efficient and cost-effective assay for PGT-A.
Main Methods:
- Whole genome amplification (WGA) of biopsied embryo specimens.
- Construction and enrichment of sequencing libraries.
- Sequencing on a semiconductor sequencing system (2-4 hour run time).
Main Results:
- The method enables high-throughput PGT-A with 24 samples per chip, generating 60-80 million reads.
- Refined protocols ensure reproducible, cost-efficient, and time-saving PGT-A detection.
- Turnaround time from sample receipt to report issuance is reduced to 5 days.
Conclusions:
- This semiconductor sequencing-based NGS method is a reproducible, high-throughput, and cost-efficient assay for PGT-A.
- The reduced turnaround time facilitates wider clinical application of PGT-A.
- The assay is ideal for detecting embryonic chromosomal aneuploidies, enhancing reproductive outcomes.
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