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Related Experiment Videos

Recent advances and future developments in PGD.

J C Harper1, D Wells

  • 1Department of Obstetrics and Gynaecology, UCL, London, U.K. joyce.harper@ucl.ac.uk

Prenatal Diagnosis
|February 8, 2000
PubMed
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Preimplantation genetic diagnosis (PGD) uses embryo biopsy, PCR, and FISH. Future techniques like whole genome amplification and microarray technology promise more accurate single-cell genetic disease diagnosis.

Area of Science:

  • Reproductive medicine
  • Genetics
  • Embryology

Background:

  • Preimplantation genetic diagnosis (PGD) has been practiced for ten years.
  • Current PGD relies on embryo biopsy, polymerase chain reaction (PCR), and fluorescent in situ hybridization (FISH).

Purpose of the Study:

  • To review current and emerging techniques in PGD.
  • To highlight advancements in molecular and cytogenetic analysis for single-cell diagnosis.

Main Methods:

  • Embryo biopsy
  • Polymerase Chain Reaction (PCR) including fluorescent and multiplex PCR
  • Fluorescent In Situ Hybridization (FISH)
  • Whole Genome Amplification (WGA)
  • Interphase chromosome conversion
  • Comparative Genomic Hybridization (CGH)

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Main Results:

  • Current cytogenetic analysis uses multiple chromosome probes for abnormalities, sexing, and aneuploidy.
  • Emerging molecular techniques include quantitative PCR, DNA fingerprinting, and microarray technology.
  • Single-cell chromosome analysis methods like interphase chromosome conversion and CGH are advancing.

Conclusions:

  • PGD techniques have evolved significantly over the past decade.
  • Advancements in molecular and cytogenetic analysis are enhancing diagnostic accuracy at the single-cell level.
  • Future technologies aim to increase the number and types of diseases diagnosable via PGD.