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

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...

You might also read

Related Articles

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

Sort by
Same author

Fluorescence In Situ Hybridization Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Testing Results From the College of American Pathologists/American College of Medical Genetics Cytogenetics Committee.

Archives of pathology & laboratory medicine·2026
Same author

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).

Advanced genetics (Hoboken, N.J.)·2025
Same author

Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study.

Genetics in medicine open·2025
Same author

Current and Future Utilization of Optical Genome Mapping: Insights From the 2024 College of American Pathologists Supplemental Questionnaire.

Archives of pathology & laboratory medicine·2025
Same author

Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel <italic>TUBA1A</italic> Variant.

Fetal diagnosis and therapy·2025
Same author

Optical Genome Mapping: A New Tool for Cytogenomic Analysis.

Genes·2025

Related Experiment Video

Updated: Jun 12, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH.

Nathan R Treff1, Brynn Levy, Jing Su

  • 1Reproductive Medicine Associates of New Jersey, Morristown, NJ 07960, USA. ntreff@rmanj.com

Molecular Human Reproduction
|May 21, 2010
PubMed
Summary

Single-cell SNP microarray screening is more reliable than FISH for detecting chromosomal abnormalities in human embryos. Microarray analysis reveals less mosaicism, suggesting FISH may overestimate mitotic errors in early development.

More Related Videos

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

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Related Experiment Videos

Last Updated: Jun 12, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

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

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Area of Science:

  • Reproductive biology
  • Human embryology
  • Genetics

Background:

  • High estimates of chromosomal mosaicism in cleavage-stage human embryos exist.
  • Previous studies lack direct comparison of different aneuploidy screening methods on the same embryo.
  • Technical inconsistencies may contribute to overestimation of embryonic mosaicism.

Purpose of the Study:

  • To compare the prevalence of chromosomal abnormalities and mosaicism using two distinct single-cell aneuploidy screening techniques.
  • To evaluate the reliability and consistency of FISH versus SNP microarray for aneuploidy screening in human embryos.

Main Methods:

  • Thirteen arrested cleavage-stage human embryos were biopsied, yielding 160 individual cells.
  • Cells were randomized into two groups for either FISH (n=75) or SNP microarray (n=85) analysis.
  • A prospective, randomized, blinded, and paired comparison of the two techniques was performed.

Main Results:

  • SNP microarray demonstrated higher reliability (96%) than FISH (83%) for interpretable results (P=0.004).
  • Mosaicism was significantly less frequent with microarray (31%) compared to FISH (100%) (P=0.0005).
  • Microarray identified fewer unique genetic diagnoses per embryo (1.3) than FISH (3.2) (P<0.0001).

Conclusions:

  • SNP microarray-based 24-chromosome aneuploidy screening offers more complete and consistent results than FISH.
  • FISH technology may overestimate the contribution of mitotic errors to aneuploidy in cleavage-stage human embryos.
  • This study provides the first direct comparison of these two methods in a paired design.