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Related Experiment Videos

Preimplantation genetic diagnosis.

J C Harper1, J D Delhanty

  • 1University College London Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, UK. joyce.harper@ucl.ac.uk

Current Opinion in Obstetrics & Gynecology
|May 17, 2000
PubMed
Summary

Preimplantation genetic diagnosis involves embryo biopsy at different stages, with cleavage stage biopsy being most common. While techniques like polymerase chain reaction face challenges, future advancements aim to improve accuracy in genetic testing.

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Area of Science:

  • Reproductive medicine and genetics
  • Embryology
  • Molecular diagnostics

Background:

  • Preimplantation genetic diagnosis (PGD) is a crucial tool in reproductive medicine.
  • Embryo biopsy is a key step in PGD, with various developmental stages suitable for sampling.
  • Cleavage stage embryo biopsy is currently the most prevalent method used globally.

Purpose of the Study:

  • To review the current practices and challenges in embryo biopsy for PGD.
  • To discuss the diagnostic techniques employed in single-cell analysis.
  • To highlight technical difficulties and future prospects in PGD.

Main Methods:

  • Review of current literature and practices in embryo biopsy for PGD.
  • Description of single-cell diagnostic methods, including polymerase chain reaction (PCR) and fluorescent in-situ hybridization (FISH).

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  • Identification of technical challenges encountered during PGD procedures.

    • Main Results:

    • The majority of centers prefer cleavage stage embryo biopsy for PGD.
    • Polymerase chain reaction and fluorescent in-situ hybridization are primary methods for single-cell genetic diagnosis.
    • Allele dropout and chromosomal mosaicism are significant technical challenges in PGD.

    Conclusions:

    • Despite existing technical hurdles, embryo biopsy for PGD is widely practiced.
    • Ongoing research and development of new techniques are expected to address current limitations.
    • Future advancements hold promise for enhancing the reliability and efficacy of PGD.