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Related Concept Videos

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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Meiosis vs. Mitosis02:57

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Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
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Related Experiment Video

Updated: May 6, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Non-invasive prenatal testing for Down syndrome.

Philip Twiss1, Melissa Hill1, Rebecca Daley1

  • 1NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square, London WC1N 3BH, UK.

Seminars in Fetal & Neonatal Medicine
|November 12, 2013
PubMed
Summary
This summary is machine-generated.

New non-invasive prenatal testing using cell-free fetal DNA can detect Down syndrome and other aneuploidies from 10 weeks gestation. These advanced tests face implementation challenges in public health services.

Keywords:
Cell-free fetal DNADown syndromeFetal aneuploidyNon-invasive prenatal testingPrenatal diagnosis

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Area of Science:

  • Genetics
  • Molecular Biology
  • Obstetrics

Background:

  • The identification of cell-free fetal DNA in maternal plasma revolutionized prenatal screening.
  • Next-generation sequencing (NGS) technologies have enabled advanced non-invasive prenatal testing (NIPT).

Purpose of the Study:

  • To discuss the implications of cell-free DNA-based prenatal screening for major aneuploidies.
  • To explore the technical, social, and ethical challenges associated with NIPT implementation.

Main Methods:

  • Analysis of cell-free fetal DNA in maternal blood using next-generation sequencing.
  • Assessment of test accuracy for predicting fetal trisomies from 10 weeks of gestation.

Main Results:

  • NIPT accurately predicts fetal trisomies using cell-free DNA from early gestation.
  • These tests are commercially available but not yet widely adopted in public health services.

Conclusions:

  • Cell-free DNA testing represents a significant advancement in prenatal diagnosis.
  • Integration into public health services requires addressing technical, social, and ethical considerations.