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Related Experiment Video

Updated: Nov 26, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Comprehensive preimplantation genetic testing by massively parallel sequencing.

Songchang Chen1,2,3, Xuyang Yin4,5,6, Sijia Zhang4

  • 1The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Human Reproduction (Oxford, England)
|December 11, 2020
PubMed
Summary

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This summary is machine-generated.

Whole genome sequencing (WGS) enables reliable embryonic genome-wide haplotyping for preimplantation genetic testing (PGT) of monogenic disorders (PGT-M), aneuploidy (PGT-A), and structural rearrangements (PGT-SR). This method is effective without requiring additional family members.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Genomic Sequencing

Background:

  • Preimplantation genetic testing (PGT) is crucial for identifying genetic abnormalities in embryos.
  • Current PGT methods, like low-depth massively parallel sequencing, often require additional family members for accurate haplotyping.
  • Whole genome sequencing (WGS) presents a potential alternative for comprehensive PGT.

Purpose of the Study:

  • To evaluate the efficacy of WGS for embryonic genome-wide haplotyping and PGT.
  • To assess WGS for PGT for monogenic disorders (PGT-M), aneuploidy (PGT-A), and structural rearrangements (PGT-SR).
  • To determine if WGS can perform comprehensive PGT without necessitating additional family members.

Main Methods:

  • WGS was applied to DNA from 53 embryos across 10 families undergoing PGT.
Keywords:
PGT-APGT-MPGT-SRaneuploidymassively parallel sequencingmonogenic disorderspreimplantation genetic testingstructural rearrangements

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  • Multiple displacement amplification (MDA) was used for DNA amplification from biopsied embryonic cells.
  • Data analysis included haplotype inheritance deduction for PGT-M/PGT-SR and read-count analysis for PGT-A.
  • Karyomapping and comparison with traditional PGT methods (SNP-array, MicroSeq) were performed for validation.

    • Main Results:

    • 100% concordance was observed between WGS and SNP-array for PGT-M and PGT-A.
    • 100% concordance was achieved between WGS and PCR-seq for detecting embryonic balanced translocations in PGT-SR cases.
    • WGS successfully performed haplotyping without requiring probands or additional family members.

    Conclusions:

    • WGS provides a reliable and comprehensive approach for embryonic genome-wide haplotyping and PGT.
    • WGS is effective for PGT-M, PGT-A, and PGT-SR, offering an improvement over existing methods.
    • This WGS-based method eliminates the need for additional family members, simplifying the PGT process.