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A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering
Mariam T Mathew1, Austin Antoniou2, Naveen Ramesh3
1The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio.
The Journal of Molecular Diagnostics : JMD
|June 19, 2022
Summary
Chromosomal microarray (CMA) testing is valuable across pediatric specialties, not just genetics. This large study shows CMA
Area of Science:
- Pediatric Genetics
- Medical Diagnostics
- Genomic Medicine
Background:
- Chromosomal microarray (CMA) is widely used in pediatrics, but data are limited outside genetics.
- Understanding CMA utilization across diverse pediatric specialties is crucial for diagnostic insights.
Purpose of the Study:
- To analyze the diagnostic yield of CMA testing in a large pediatric cohort across various medical specialties.
- To delineate CMA utility based on patient characteristics, indications, and pathogenic findings.
Main Methods:
- Database search for CMA tests performed between 2010-2020.
- Analysis of 14,541 pediatric patients from 29 specialties.
- Categorization of indications using Human Phenotype Ontology.
Main Results:
- CMA testing demonstrated diagnostic utility across multiple pediatric specialties.
- Neonatology patients showed the broadest involvement of multiple organ systems.
- 22q11.21 deletions were common findings in genetics, neonatology, cardiology, and surgery.
Conclusions:
- This study provides the largest pediatric cohort data on CMA utility to date.
- CMA is a valuable diagnostic tool for pediatric patients across various clinical settings.
- Normative data on CMA results in a general pediatric population are now available.
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