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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Non-Invasive Prenatal Testing beyond Trisomies.

Ioan Dumitru Suciu1,2, Oana Daniela Toader2,3, Slavyana Galeva4

  • 1Department of General Surgery, Floreasca Emergency Hospital, Bucharest, Romania.

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|November 1, 2019
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Summary

Non-invasive prenatal testing (NIPT) accurately screens for Down syndrome. However, expanded NIPT panels detect rare conditions with unclear clinical benefits, necessitating careful consideration of potential harms.

Keywords:
AmniocentesisNIPTchromosomal abnormalitiesgenome

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Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Next-generation sequencing of cell-free DNA has revolutionized prenatal diagnostics.
  • Non-invasive prenatal testing (NIPT) offers high accuracy for fetal chromosomal abnormalities like Down syndrome.

Purpose of the Study:

  • To evaluate the clinical utility and potential harms of expanded NIPT panels.
  • To assess the implementation of NIPT for conditions beyond common aneuploidies.

Main Methods:

  • Review of current advancements in NIPT technology.
  • Analysis of data regarding the performance of extended NIPT panels.

Main Results:

  • NIPT demonstrates superior sensitivity and specificity for Down syndrome compared to traditional screening.
  • Data on the clinical performance and prevalence of rare conditions detected by extended NIPT panels are limited.

Conclusions:

  • While NIPT is effective for Down syndrome screening, the clinical benefit of detecting rare conditions requires further investigation.
  • Careful consideration of both benefits and potential harms is crucial before implementing widespread extended NIPT panels.