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Related Concept Videos

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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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.
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Updated: Dec 13, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Preimplantation Genetic Testing for Monogenic Disorders.

Martine De Rycke1, Veerle Berckmoes1

  • 1Center for Medical Genetics, Universitair Ziekenhuis Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

Genes
|August 6, 2020
PubMed
Summary

Preimplantation genetic testing (PGT) offers an alternative to prenatal diagnosis. Advances in genetic testing, including next-generation sequencing, are improving efficiency and enabling combined analyses for various genetic conditions.

Keywords:
NGSSNP arraymonogenic diseasemultiplex PCRpreimplantation genetic testing

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Area of Science:

  • Reproductive genetics
  • Genomic medicine

Background:

  • Preimplantation genetic testing (PGT) is a valuable alternative to invasive prenatal diagnosis.
  • Single-cell genetic testing presents significant challenges.
  • PGT-M is theoretically applicable for any monogenic disorder with an identified disease locus, but regulations vary globally.

Purpose of the Study:

  • To review the current state of Preimplantation Genetic Testing for Monogenic disorders (PGT-M).
  • To discuss the future directions and advancements in PGT.

Main Methods:

  • Transition from multiplex PCR to whole genome amplification with SNP array or Next-Generation Sequencing (NGS).
  • Development of generic workflows reducing turnaround times and laboratory workload.
  • Concurrent analysis of PGT-M and PGT-A (aneuploidy testing) using generic methods.

Main Results:

  • Significant reduction in waiting times for couples undergoing PGT.
  • Decreased workload for genetic testing laboratories.
  • Enabling of simultaneous PGT-M and PGT-A analysis.

Conclusions:

  • The field of PGT is moving towards comprehensive, sequencing-based solutions for PGT-M, PGT-SR (structural rearrangements), and PGT-A.
  • Advancing algorithms and declining sequencing costs support an all-in-one PGT approach.
  • The increasing complexity of genetic data necessitates enhanced genetic counseling.