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Related Concept Videos

Nondisjunction01:21

Nondisjunction

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 sister...
Nondisjunction01:29

Nondisjunction

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.
Nondisjunction01:29

Nondisjunction

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.
Karyotyping01:17

Karyotyping

Overview
Karyotyping01:17

Karyotyping

Overview
Genetic Screens02:46

Genetic Screens

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 result in visible changes...

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Related Experiment Video

Updated: May 11, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Prenatal screening methods for aneuploidies.

Madhusudan Dey1, Sumedha Sharma, Sumita Aggarwal

  • 1Department of Obstetrics and Gynaecology, Armed Forces Medical College (AFMC), Pune, India.

North American Journal of Medical Sciences
|April 30, 2013
PubMed
Summary
This summary is machine-generated.

Prenatal screening for aneuploidies has evolved from maternal age to include biochemical and ultrasound markers. Non-invasive prenatal testing using cell-free fetal DNA offers a promising alternative to reduce miscarriage risks.

Keywords:
Biochemical screeningCell-free fetal DNANon-invasive prenatal testingPrenatal diagnosisTrisomy

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Area of Science:

  • Obstetrics and Gynecology
  • Genetics
  • Perinatal Medicine

Background:

  • Aneuploidies significantly contribute to perinatal morbidity and mortality.
  • Aneuploidy screening is a primary indication for invasive prenatal diagnosis.
  • Traditional screening involves maternal age, biochemical, and ultrasound markers.

Purpose of the Study:

  • To review the evolution of aneuploidy screening methods.
  • To discuss the potential and limitations of non-invasive prenatal testing (NIPT).
  • To highlight the shift towards cell-free fetal DNA analysis.

Main Methods:

  • Review of historical and current prenatal screening methodologies.
  • Discussion of non-invasive prenatal testing (NIPT) utilizing cell-free fetal DNA.
  • Analysis of the advantages and disadvantages of invasive versus non-invasive techniques.

Main Results:

  • Screening has progressed from maternal age to integrated marker approaches.
  • Non-invasive prenatal testing (NIPT) using cell-free fetal DNA is emerging as a key advancement.
  • NIPT reduces the miscarriage risk associated with invasive procedures.

Conclusions:

  • Non-invasive prenatal testing (NIPT) offers a safer alternative for aneuploidy screening.
  • Current technical limitations and ethical considerations require careful evaluation for widespread NIPT implementation.
  • Further research is needed to optimize NIPT before broad clinical adoption.