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Related Concept Videos

Nondisjunction01:21

Nondisjunction

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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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Nondisjunction01:29

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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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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
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Overview
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Meiosis I01:49

Meiosis I

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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
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Updated: Mar 19, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Aneuploidy Screening in Pregnancy.

Jodi S Dashe1

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, and Parkland Hospital, Dallas, Texas.

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|June 9, 2016
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Summary

Prenatal screening for fetal chromosomal abnormalities has advanced significantly. Modern methods like cell-free DNA tests offer improved detection rates and accuracy for common aneuploidies, especially in older women.

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Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
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Area of Science:

  • Genetics
  • Obstetrics
  • Prenatal Diagnostics

Background:

  • Prenatal aneuploidy screening has evolved, expanding from limited trisomies to comprehensive chromosomal abnormality detection.
  • Early screening focused on trisomies 21 and 18 for low-risk pregnancies, later expanding with marker screens.
  • Advancements include cell-free DNA (cfDNA) tests and integrated marker tests, enhancing detection and applicability.

Purpose of the Study:

  • To review the benefits and limitations of current prenatal aneuploidy screening methods.
  • To discuss the evolving landscape of chromosomal abnormality detection in fetuses.
  • To highlight counseling considerations for healthcare providers offering these advanced screening options.

Main Methods:

  • Review of advancements in prenatal aneuploidy screening technologies.
  • Analysis of detection rates, positive predictive values, and false-positive rates.
  • Examination of counseling complexities arising from precise risk assessments.

Main Results:

  • Cell-free DNA screening effectively identifies common autosomal trisomies and sex chromosome aneuploidies.
  • Screening is particularly effective in older women due to higher positive predictive values and lower false-positive rates.
  • Integrated multiple marker tests offer specific risk assessments for trisomies 21, 18, and 13, with potential for broader aneuploidy detection.

Conclusions:

  • Current prenatal screening methods offer significant improvements in detecting fetal chromosomal abnormalities.
  • The complexity of counseling has increased due to enhanced precision and a wider array of screening options.
  • Understanding the benefits, limitations, and counseling implications is crucial for informed patient care.