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Karyotyping

Karyotyping

Karyotyping

Karyotyping

DNA Microarrays

DNA Microarrays

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...

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Updated: Apr 21, 2026

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

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

Published on: February 21, 2015

Chromosomal microarray analysis and prenatal diagnosis.

Jamie O Lo¹, Brian L Shaffer², Cori D Feist³

¹Maternal Fetal Medicine Fellow.

Obstetrical & Gynecological Survey

|October 23, 2014

Summary

This summary is machine-generated.

Chromosomal microarray analysis (CMA) offers higher resolution for detecting copy number alterations in prenatal diagnosis compared to karyotyping. Further research is needed before routine use in low-risk populations.

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Area of Science:

Genetics
Prenatal Diagnosis
Genomic Medicine

Background:

Standard karyotyping has limitations in detecting chromosomal copy number alterations.
Chromosomal microarray analysis (CMA) provides higher resolution for identifying these alterations.

Purpose of the Study:

To review the technology, applications, and controversies of CMA in prenatal diagnosis.
To inform obstetric providers about the utility of CMA.

Main Methods:

Review of existing literature and evidence on CMA in prenatal diagnosis.
Comparison of CMA with standard karyotype for detecting chromosomal abnormalities.

Main Results:

CMA offers increased resolution for copy number abnormalities compared to karyotyping.
High-quality evidence supports CMA's ability to detect clinically significant copy number alterations when karyotype is normal.
CMA has potential advantages like quicker turnaround time and utility in cases with non-dividing cells.

Conclusions:

CMA is beneficial for specific prenatal indications, including detecting microdeletions/microduplications and assessing copy number variants in certain rearrangements.
The detection of copy number variants of uncertain significance is a key consideration.
Large prospective studies are required to establish CMA's diagnostic utility in low-risk populations before widespread routine use.