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

62.3K
Overview
62.3K
DNA Microarrays02:34

DNA Microarrays

18.4K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
18.4K

You might also read

Related Articles

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

Sort by
Same author

Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism.

Journal of the Endocrine Society·2026
Same author

Deep Learning for Content-Based Medical Image Retrieval in Picture Archiving and Communication Systems for Brain Tumor Detection: Algorithm Development and Validation.

JMIR medical informatics·2026
Same author

Intraoperative Suction-Assisted Kyphoplasty for Immediate Removal of Posterior PMMA Extravasation in Decompressed Vertebral Compression Fractures.

Journal of clinical medicine·2026
Same author

Home Sleep Endoscopy: Evaluating the Feasiblity of a Remote Diagnostic Tool.

The Laryngoscope·2026
Same author

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a <i>COL2A1</i> Missense Mutation.

International journal of molecular sciences·2025
Same author

Induction of endogenous IL-10 promotes resolution and tolerance of nitric oxide in microglia.

Brain, behavior, & immunity - health·2025

Related Experiment Video

Updated: Sep 5, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.5K

Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies.

Ching-Hua Hsiao1,2, Jia-Shing Chen3, Yu-Ming Shiao4,5

  • 1Department of Biomedical Engineering, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.

Journal of Clinical Medicine
|July 9, 2022
PubMed
Summary

Chromosomal microarray analysis (CMA) is a valuable first step in prenatal diagnosis for high-risk pregnancies, effectively identifying aneuploidies and copy number variants. It offers a comprehensive genetic assessment, aiding in the diagnosis of fetal structural anomalies.

Keywords:
amniotic fluid (AF)chorionic villus sampling (CVS)chromosomal microarray analysis (CMA)copy number variants (CNVs)variants of unknown significance (VOUS)

More Related Videos

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.0K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.7K

Related Experiment Videos

Last Updated: Sep 5, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.5K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.0K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.7K

Area of Science:

  • Prenatal Diagnosis
  • Genetics
  • Medical Diagnostics

Background:

  • High-risk pregnancies necessitate accurate diagnostic tools.
  • Chromosomal microarray analysis (CMA) is a modern genetic testing method.
  • Assessing CMA's utility in prenatal diagnosis is crucial for clinical practice.

Purpose of the Study:

  • To evaluate the effectiveness of chromosomal microarray analysis (CMA) in prenatal diagnosis for high-risk pregnancies.
  • To compare CMA with traditional G-banding karyotype analysis.
  • To determine the diagnostic yield of CMA for various genetic abnormalities.

Main Methods:

  • Analysis of 1037 samples (chorionic villi and amniocentesis) from high-risk pregnancies between 2016 and 2021.
  • Inclusion criteria: advanced maternal age, fetal structural abnormalities, abnormal screening results, or family history of genetic disorders.
  • Both G-banding karyotype analysis and CMA (oligonucleotide array-based comparative genomic hybridization) were performed on extracted DNA.

Main Results:

  • Aneuploidies were detected in 4.05% of cases by both methods.
  • In cases with normal karyotypes, CMA identified copy number variants (CNVs) in 10.6%, including pathogenic/likely pathogenic CNVs in 2.9%.
  • CMA did not detect certain rearrangements like inversions, balanced translocations, and low-level mosaicism, which were identified by G-banding.

Conclusions:

  • CMA is an effective initial diagnostic tool for high-risk pregnancies, particularly those with fetal structural anomalies identified via ultrasound.
  • CMA provides a higher detection rate for copy number variants compared to karyotyping alone.
  • While CMA is powerful, G-banding karyotyping remains important for detecting specific chromosomal rearrangements not identified by CMA.