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Related Experiment Videos

Pre-implantation genetic diagnosis.

Joyce C Harper1, The-Hung Bui

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

Best Practice & Research. Clinical Obstetrics & Gynaecology
|December 12, 2002
PubMed
Summary

Pre-implantation genetic diagnosis (PGD) offers an alternative to prenatal testing, involving in vitro fertilization and embryo biopsy for genetic analysis. PGD aids in detecting genetic disorders and improving pregnancy rates in infertile patients.

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Area of Science:

  • Reproductive Medicine
  • Medical Genetics
  • Embryology

Background:

  • Pre-implantation genetic diagnosis (PGD) presents an alternative to traditional prenatal diagnosis for specific patient groups.
  • The PGD process necessitates in vitro fertilization (IVF) to obtain embryos for genetic analysis.

Purpose of the Study:

  • To outline the methodologies and applications of pre-implantation genetic diagnosis.
  • To discuss the role of PGD in managing genetic disorders and improving IVF outcomes.
  • To highlight advancements in PGD techniques and their ethical considerations.

Main Methods:

  • Embryo biopsy is performed at the 8-cell stage, removing one to two cells for genetic testing.
  • Genetic analysis is conducted using fluorescence in situ hybridization (FISH) for chromosomal abnormalities and polymerase chain reaction (PCR) for single-gene disorders.

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  • Advanced techniques like comparative genomic hybridization (CGH) enable comprehensive chromosomal analysis from a single cell.

    • Main Results:

    • FISH is utilized for sexing in X-linked diseases, detecting chromosomal abnormalities, and aneuploidy screening.
    • PCR is employed for diagnosing single-gene disorders, often with linked/unlinked markers to mitigate contamination and allele dropout risks.
    • Aneuploidy screening in infertile IVF patients aims to enhance pregnancy rates.

    Conclusions:

    • PGD provides a crucial tool for genetic screening before embryo implantation.
    • Technological advancements are expanding the scope and accuracy of PGD.
    • The ethical implications of PGD, including social sexing and HLA matching, warrant careful consideration.