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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Karyomapping and how is it improving preimplantation genetics?

Rebecca L Gould1,2, Darren K Griffin2

  • 1a The Bridge Centre , London , UK.

Expert Review of Molecular Diagnostics
|May 2, 2017
PubMed
Summary

Karyomapping offers a unified approach for preimplantation genetic diagnosis (PGD), detecting both single gene and chromosomal disorders. While effective for monogenic conditions, its clinical application for chromosomal abnormalities is pending further development.

Keywords:
IVFPGDPGSPGTkaryomapping

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Area of Science:

  • Reproductive genetics
  • Genomic technologies
  • Embryo screening

Background:

  • Preimplantation genetic diagnosis and screening (PGD/PGS) has been used for over 25 years.
  • Existing PGD/PGS technologies require case-specific tailoring and use different methods for monogenic and chromosomal disorders.
  • Advancements are needed for more efficient and streamlined diagnoses.

Purpose of the Study:

  • To review the evolution of preimplantation genetics.
  • To investigate technologies that can simultaneously detect monogenic and chromosomal disorders.
  • To assess the current status and limitations of Karyomapping.

Main Methods:

  • Review of manuscripts on the evolution of preimplantation genetics.
  • Focus on technologies for simultaneous detection of monogenic and chromosomal disorders.
  • Analysis of Karyomapping technology and its clinical application.

Main Results:

  • Karyomapping determines inheritance from parental haplotypes by analyzing inherited chromosomal segments.
  • It identifies genetic status, homologous chromosomes, crossovers, and heterozygous SNP calls, avoiding allele dropout.
  • Karyomapping is available for single gene disorders, with ~2500 cases performed worldwide.
  • It cannot yet reliably detect post-zygotic trisomy or address embryo mosaicism for chromosomal disorder detection.

Conclusions:

  • Karyomapping represents a significant evolution in preimplantation genetics.
  • It is currently clinically available for monogenic disorders.
  • Further technological refinement is required for reliable clinical application in detecting chromosomal disorders.