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Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay.

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Chromosomal microarray (CMA) is a genetic test for copy number variations (CNVs). In infants with developmental delay (DD), CMA is most beneficial when brain anomalies are present, aiding diagnosis and treatment.

Keywords:
brain and cardiac anomalieschromosomal microarraydevelopmental delaydysmorphismgenetic counseling

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Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Chromosomal microarray (CMA) is a first-tier genetic test for copy number variations (CNVs), detecting submicroscopic deletions and duplications.
  • CMA's high cost and a diagnostic yield under 10% in infants with developmental delay (DD) necessitate evaluating its clinical utility.
  • Understanding the relationship between CMA results and clinical features in DD is crucial for targeted genetic analysis.

Purpose of the Study:

  • To investigate the association between chromosomal microarray (CMA) findings and clinical features in infants with developmental delay (DD).
  • To identify specific clinical indicators that may predict a higher diagnostic yield from CMA in this population.

Main Methods:

  • Retrospective review of clinical records for 59 infants with DD.
  • Data collected included demographics, perinatal history, parent-related factors, and brain imaging.
  • Infants were categorized based on CMA results (pathogenic, variants of unknown significance, benign, normal CNVs).

Main Results:

  • No significant differences in clinical parameters were found between groups with pathogenic/likely pathogenic CNVs and those with benign/normal CNVs, except for brain anomalies.
  • Infants with pathogenic and likely pathogenic CNVs showed a significantly higher incidence of brain anomalies (p < 0.05).
  • Developmental delay (DD) with dysmorphism or brain anomaly may indicate a higher benefit from early CMA.

Conclusions:

  • Chromosomal microarray (CMA) analysis may be particularly beneficial for infants with developmental delay (DD) who exhibit brain anomalies.
  • Early CMA testing in infants with DD and specific clinical features like brain anomalies can aid in timely diagnosis and treatment.
  • Further research is warranted to confirm the correlation between specific clinical parameters of DD and CMA outcomes.