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Updated: Jun 20, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting
Amy M Breman1, Wei-min Bi, Sau Wai Cheung
1Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Summary
Array-based comparative genomic hybridization (array CGH) offers advanced prenatal diagnosis by detecting smaller genetic imbalances than conventional methods. This genomic imbalance testing improves accuracy and efficiency in clinical cytogenetics.
Area of Science:
- Genetics
- Genomics
- Prenatal Diagnosis
Background:
- Conventional chromosome analysis has limitations in detecting small genetic variations.
- Microscopically visible copy number changes are typically 5-6 Mb.
- Current methods are limited in detecting sub-microscopic genomic imbalances.
Purpose of the Study:
- To review array-based comparative genomic hybridization (array CGH) methodology.
- To summarize current applications of array CGH in prenatal diagnosis.
- To highlight array CGH as an advancement in cytogenetic testing.
Main Methods:
- Array CGH analyzes the entire genome for gains or losses of genetic material.
- Detects unbalanced structural and numerical chromosome abnormalities.
- Utilizes direct uncultured fetal specimens, reducing culture time.
Main Results:
- Array CGH detects genomic imbalances smaller than 100 kb.
- It overcomes limitations of conventional chromosome analysis.
- Significant growth in array CGH use for prenatal diagnosis is observed.
Conclusions:
- Array CGH is a significant technological advancement in prenatal diagnosis.
- It offers improved detection of genomic imbalances compared to traditional methods.
- Array CGH enhances the capabilities of clinical cytogenetic laboratories.
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