Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by
Roberta Milone1, Claudia Cesario2, Marina Goldoni3
1Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
Journal of Pediatric Genetics
|December 1, 2021
Summary
Cytogenomic microarray analysis (CMA) is a valuable tool for diagnosing neurodevelopmental disorders, especially when brain anomalies are present. Combining CMA with neuroimaging, like MRI, improves diagnostic yield for intellectual developmental disorders (IDDs) and related conditions.
Area of Science:
- Genetics and Genomics
- Neurodevelopmental Disorders
- Medical Imaging
Background:
- Neurodevelopmental disorders, including intellectual developmental disorders (IDDs), autism spectrum disorders (ASDs), and epilepsy (EPI), are often linked to genetic factors and brain anomalies.
- Copy number variations (CNVs) are a significant cause of these disorders, and cytogenomic microarray analysis (CMA) is a key diagnostic tool.
- Understanding the interplay between genetic variations, brain structure, and clinical presentation is crucial for accurate diagnosis and management.
Purpose of the Study:
- To evaluate the relationship between neurodevelopmental disorders, brain anomalies, and CNVs.
- To assess the diagnostic utility of CMA in patients with IDDs, alone or with ASDs and/or EPI.
- To determine the value of integrating CMA with brain magnetic resonance imaging (MRI).
Main Methods:
- A 7-year retrospective study of patients who underwent both CMA and brain MRI.
- Patients were categorized into four groups: IDD, IDD+ASD, IDD+EPI, and IDD+ASD+EPI.
- Analysis focused on CMA detection rates, MRI findings, and their correlation with specific anomaly types and clinical subgroups.
Main Results:
- CMA demonstrated a significant diagnostic yield, particularly in patients with detectable brain anomalies on MRI.
- The IDD+ASD subgroup showed the lowest detection rates for both CMA and brain anomalies.
- Posterior fossa anomalies were strongly associated with positive CMA results and pathogenic CNVs.
Conclusions:
- CMA remains a highly relevant diagnostic test for IDDs, even in the era of next-generation sequencing.
- Integrating neuroimaging, especially MRI, with CMA enhances diagnostic accuracy for neurodevelopmental disorders.
- Neuroimaging is recommended for patients with IDDs, particularly those with identified genomic imbalances or posterior fossa anomalies.
