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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Related Experiment Video

Updated: May 3, 2026

FISH for Pre-implantation Genetic Diagnosis
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Preimplantation genetic screening: a practical guide.

Paul R Brezina1, Raymond W Ke1, William H Kutteh1

  • 1Fertility Associates of Memphis, Memphis, TN.

Clinical Medicine Insights. Reproductive Health
|January 24, 2014
PubMed
Summary

Preimplantation genetic screening (PGS) analyzes embryo chromosomes during in vitro fertilization (IVF). This advanced genetic testing helps identify chromosomal abnormalities, but its application remains under discussion.

Keywords:
FISHPGDPGSembryomicroarraypreimplantation genetic screeningrecurrent pregnancy loss

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Area of Science:

  • Medical Genetics
  • Reproductive Medicine
  • Embryology

Background:

  • Significant advancements in medical genetics over recent decades.
  • Integration of genetic technologies into reproductive medicine.
  • Emergence of new diagnostic possibilities in assisted reproduction.

Purpose of the Study:

  • To introduce preimplantation genetic screening (PGS) as a novel application in reproductive medicine.
  • To define PGS as the genetic evaluation of embryo aneuploidy.
  • To highlight the ongoing debate surrounding the implementation of PGS.

Main Methods:

  • Cellular biopsy of developing embryos during in vitro fertilization (IVF) cycles.
  • Genetic evaluation of biopsied embryonic cells.
  • Sophisticated analysis to detect aneuploidy (abnormal chromosome number).

Main Results:

  • Current possibility of obtaining and genetically evaluating embryonic samples.
  • Increasing sophistication and detail in genetic analysis.
  • Identification of aneuploidy in developing embryos.

Conclusions:

  • Preimplantation genetic screening (PGS) represents a significant development in reproductive genetics.
  • The precise application and patient selection for PGS are subjects of ongoing debate.
  • Further research and discussion are needed to establish guidelines for PGS.