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Preimplantation diagnosis

J D Delhanty1

  • 1Department of Genetics and Biometry, University College London, UK.

Prenatal Diagnosis
|December 1, 1994
PubMed
Summary
This summary is machine-generated.

Preimplantation genetic diagnosis (PGD) allows couples to screen embryos for genetic diseases before pregnancy. Techniques like fluorescent in situ hybridization (FISH) enable accurate sexing and chromosomal analysis, ensuring healthier outcomes.

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Area of Science:

  • Reproductive Medicine
  • Human Genetics
  • Embryology

Background:

  • Research into preimplantation diagnosis of genetic disease began in the UK in the mid-1980s.
  • Aims to provide couples with an alternative to pregnancy termination for genetic disease management.
  • Embryo biopsy of cleavage-stage embryos for genetic analysis is feasible without impeding development.

Purpose of the Study:

  • To review the development and application of preimplantation genetic diagnosis (PGD).
  • To highlight advancements in molecular genetic diagnostic techniques for embryos.
  • To assess the safety and efficacy of PGD in preventing genetic disease transmission.

Main Methods:

  • Early methods involved polymerase chain reaction (PCR) for Y chromosome detection to avoid X-linked diseases.

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  • Current preferred method: Fluorescent in situ hybridization (FISH) for unambiguous sex determination and chromosome copy number analysis.
  • Development of PCR-based methods for specific single-gene disorders (e.g., cystic fibrosis, Tay-Sachs, Lesch-Nyhan).

    • Main Results:

    • FISH enables accurate sexing and detection of aneuploidy, preventing transfer of chromosomally abnormal embryos.
    • Discovery of common chromosomal mosaicism in cleavage-stage embryos, impacting diagnostic strategies.
    • Successful PGD for several monogenic disorders, with 29 babies born from 32 established pregnancies without adverse effects.

    Conclusions:

    • PGD is a safe and effective method for couples at risk of transmitting genetic diseases.
    • Advancements in molecular and cytogenetic techniques have significantly improved PGD capabilities.
    • PGD offers a valuable option for reproductive planning, contributing to healthier offspring and a better understanding of early human development.