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In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
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Down Syndrome: Current Status, Challenges and Future Perspectives.

Mohammad Kazemi1, Mansoor Salehi1, Majid Kheirollahi2

  • 1Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Medical Genetic Center of Genome, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

International Journal of Molecular and Cellular Medicine
|December 13, 2016
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Summary

Down syndrome (DS), a genetic disorder from trisomy 21, affects 1 in 400-1500 newborns. Advances in noninvasive prenatal screening (NIPS) using cell-free fetal DNA offer new diagnostic hope.

Keywords:
Down syndromecell-free fetal DNA (cffDNA); noninvasive prenatal screening (NIPS)chromosome abnormalityprenatal diagnosistrisomy 21

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Area of Science:

  • Genetics
  • Medical Science

Background:

  • Down syndrome (DS) is the most common genetic cause of intellectual disability, resulting from trisomy 21.
  • Characterized by significant medical and social costs, DS affects approximately 1 in 400-1500 newborns globally.
  • While known for centuries, clinical description by John Langdon Down in 1866 led to its naming.

Approach:

  • Reviewing advancements in understanding candidate genes involved in specific DS features.
  • Discussing the evolution of prenatal screening methods for aneuploidy.
  • Highlighting the development and application of noninvasive prenatal screening (NIPS) using cell-free fetal DNA.

Key Points:

  • Identification of candidate genes offers potential for targeted therapies for individuals with trisomy 21.
  • Noninvasive prenatal screening (NIPS) represents a significant advancement over traditional maternal serum analyte and ultrasonography methods.
  • NIPS utilizes cell-free fetal DNA from maternal blood, improving prenatal diagnosis accessibility and accuracy.

Conclusions:

  • Continued research into DS genetics may lead to novel therapeutic strategies.
  • NIPS is transforming prenatal care by providing a safer and more effective method for detecting Down syndrome.
  • The review emphasizes the progress and impact of NIPS in managing Down syndrome screening.