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

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Published on: February 21, 2015

Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility.

Joshua Meyer¹, Emily Hershman², Ananditha Sivakumaran³

¹School of Medicine, Creighton University, Phoenix, AZ 85012, USA.

Life (Basel, Switzerland)

|June 26, 2026

Summary

Chromosomal microarray analysis (CMA) is valuable for critically ill children in intensive care units (ICUs), yielding diagnoses in 15% of cases. Its utility is highest in patients with multiple congenital anomalies, supporting its routine use in ICU genomic evaluations.

Keywords:

absence of heterozygosity chromosomal microarray analysis congenital anomalies congenital heart defects copy number variants critically ill children developmental delay diagnostic yield genomic testing uniparental disomy

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Area of Science:

Genetics
Genomic Medicine
Pediatric Critical Care

Background:

Chromosomal microarray analysis (CMA) is a standard diagnostic tool for pediatric patients with congenital anomalies or developmental concerns.
Its diagnostic utility in critically ill neonates and children within intensive care units (ICUs) is not well-established.

Purpose of the Study:

To evaluate the diagnostic yield and variant patterns of CMA in critically ill pediatric patients admitted to ICUs.
To assess the effectiveness of CMA in guiding diagnosis, management, and genetic counseling for this patient population.

Main Methods:

Retrospective review of 679 pediatric patients undergoing CMA in NICU, PICU, or CVICU from 2019-2024.
Extraction of demographic data, clinical indications, and CMA results from electronic medical records.
Analysis of diagnostic yield and types of chromosomal abnormalities detected.

Main Results:

CMA identified clinically relevant findings in 15.0% (102/679) of critically ill pediatric ICU patients.
Pathogenic or likely pathogenic variants were found in 88 and 12 patients, respectively; 2 patients had UPD.
Higher diagnostic yields were observed in patients with congenital anomalies plus congenital heart defects (48.4%) compared to isolated congenital heart defects (8.4%).

Conclusions:

CMA is a valuable diagnostic tool for critically ill neonates and children, especially those with multisystem congenital anomalies.
The findings support the routine integration of CMA into genomic evaluation protocols for ICU populations.
CMA aids in diagnosis, management decisions, and genetic counseling for pediatric ICU patients.