Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Karyotyping01:17

Karyotyping

70.8K
Overview
70.8K
Karyotyping01:17

Karyotyping

12.1K
12.1K
Genetic Screens02:46

Genetic Screens

5.9K
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...
5.9K
Teratogenicity01:07

Teratogenicity

4.6K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.6K
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

75.6K
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...
75.6K
Nondisjunction01:21

Nondisjunction

6.0K
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...
6.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Making a case for using MDMA-assisted psychotherapy for borderline personality disorder and complex PTSD: a descriptive systematic review of the literature.

Therapeutic advances in psychopharmacology·2026
Same author

Robotic Magnetic Navigation Versus Manual Catheter Ablation for Premature Ventricular Contractions: A Single-center Retrospective Cohort Study.

The Journal of innovations in cardiac rhythm management·2026
Same author

Time to diagnosis and treatment for borderline personality disorder - opportunities and pitfalls during the consumer mental health journey.

Journal of psychiatric research·2026
Same author

A tooth autotransplantation cost model for pediatric through young adult patients.

Journal of the American Dental Association (1939)·2026
Same author

Dual BCL-xL and BCL-2 Inhibition for Advanced Myeloid Neoplasms: A phase 1 dose-escalation study of Navitoclax, Venetoclax, and Decitabine.

Clinical cancer research : an official journal of the American Association for Cancer Research·2026
Same author

Asymmetry in updating of emotion inferences from faces and situations.

Emotion (Washington, D.C.)·2026

Related Experiment Video

Updated: Apr 18, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

10.0K

An Overview on Prenatal Screening for Chromosomal Aberrations.

Lucas Hixson1, Srishti Goel1, Paul Schuber1

  • 1Keck Graduate Institute, Claremont, CA, USA.

Journal of Laboratory Automation
|January 15, 2015
PubMed
Summary

Early prenatal detection of fetal chromosomal aneuploidies is crucial for pregnancy management. Next-generation sequencing offers a minimally invasive, sensitive, and rapid alternative to traditional diagnostic methods.

Keywords:
Down syndromeaneuploidychromosomesnext-generation sequencingscreeningtrisomy

More Related Videos

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

38.1K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

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

Published on: August 17, 2022

3.7K

Related Experiment Videos

Last Updated: Apr 18, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

10.0K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

38.1K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

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

Published on: August 17, 2022

3.7K

Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Molecular Biology

Background:

  • Chromosomal aneuploidies, abnormal chromosome numbers, affect fetal development and can lead to severe health issues or pregnancy loss.
  • Accurate and timely prenatal detection is vital for parental decision-making and planning.
  • Existing diagnostic methods have limitations in sensitivity, specificity, invasiveness, or turnaround time.

Purpose of the Study:

  • To review current and emerging methods for prenatal detection of fetal chromosomal aneuploidies.
  • To compare traditional and next-generation sequencing techniques based on clinical utility, technology, and market potential.

Main Methods:

  • Review of existing literature on prenatal aneuploidy screening and diagnostic techniques.
  • Analysis of minimally invasive methods like maternal serum sampling and nuchal translucency testing.
  • Evaluation of invasive methods including karyotyping via amniocentesis or chorionic villus sampling.
  • Assessment of next-generation sequencing (NGS) approaches using cell-free fetal DNA in maternal blood.

Main Results:

  • Traditional methods like serum sampling and nuchal translucency testing offer early screening but lack diagnostic accuracy.
  • Invasive methods like karyotyping are accurate but carry risks of miscarriage.
  • Next-generation sequencing of cell-free fetal DNA presents a minimally invasive, highly sensitive, and specific diagnostic option with shorter turnaround times.

Conclusions:

  • Next-generation sequencing represents a significant advancement in prenatal diagnosis of chromosomal aneuploidies.
  • This technology offers improved clinical utility for parents by providing rapid, accurate, and less invasive testing options.
  • Further evaluation of technological characteristics and market potential is ongoing for widespread clinical adoption.