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

Chromosomal microarray (CMA) detecting aneuploidies and CNVs in critically ill children in intensive care

A retrospective review of 679 patients in neonatal, pediatric, and cardiovascular intensive care who underwent chromosomal microarray (CMA) between 2019 and 2024 assessed its diagnostic yield. CMA identified a clinically relevant finding in 102/679 patients (overall yield 15.0%), including 88 pathogenic variants, 12 likely pathogenic, and 2 uniparental disomies. A VUS was detected in 20.5% of patients. Yield reached 48.4% in patients with multiple congenital anomalies including a heart defect, versus 8.4% for isolated heart defect. These results support systematic integration of CMA into genomic evaluation protocols for intensive care populations.

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This study documents a useful real-world reality: CMA retains substantial diagnostic value in intensive care, especially for multiple congenital anomalies. Stratification by phenotype (isolated vs syndromic heart defect) helps prioritize testing. As rapid genome sequencing gains ground in intensive care, these data are a reminder that CMA remains a relevant and cost-effective tool in certain targeted indications.