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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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CRISPR01:59

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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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Related Experiment Video

Updated: Mar 20, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Preimplantation genetic screening 2.0: the theory.

Joep Geraedts1, Karen Sermon2

  • 1GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands joep.geraedts@mumc.nl.

Molecular Human Reproduction
|June 4, 2016
PubMed
Summary

Preimplantation genetic screening (PGS) 2.0 offers new methods for IVF success, but its benefits require further proof. Trophectoderm biopsy and comprehensive chromosomal analysis are key to its future.

Keywords:
aneuploidyarray comparative genomic hybridizationblastocyst biopsyblastomere biopsychromosomal abnormalitiescomprehensive chromosome screeningpolar body biopsypreimplantation genetic screening

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Area of Science:

  • Reproductive medicine
  • Genetics
  • Embryology

Background:

  • A new generation of preimplantation genetic screening (PGS) has emerged.
  • PGS 2.0 aims to improve in vitro fertilization (IVF) success rates.
  • Current evidence from randomized controlled trials (RCTs) is lacking to confirm its benefits.

Purpose of the Study:

  • To provide an overview of Preimplantation Genetic Screening (PGS) 2.0.
  • To discuss indications, optimal biopsy timing, and molecular techniques.
  • To evaluate the potential of PGS 2.0 in improving IVF outcomes.

Main Methods:

  • Review of current PGS 2.0 strategies.
  • Discussion of biopsy techniques, favoring trophectoderm biopsy over cleavage stage.
  • Analysis of molecular methods for assessing aneuploidy across all 24 chromosomes.

Main Results:

  • PGS 2.0 has various potential indications.
  • Trophectoderm biopsy is preferred over cleavage stage biopsy.
  • Improved vitrification methods facilitate frozen embryo transfer, often replacing fresh transfers.
  • Multiple methods exist for analyzing aneuploidy of all 24 chromosomes.

Conclusions:

  • The success of PGS 2.0 hinges on effective biopsy strategies and comprehensive chromosomal analysis.
  • Defining and comparing IVF success metrics across studies remains challenging.
  • The optimal application and patient groups for PGS 2.0 are yet to be determined.