Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases

Area of Science:

• Genetics
• Cardiology
• Developmental Biology

Background:

• Congenital heart diseases (CHDs) are common birth defects with diverse etiologies, including genetic factors.
• While etiology is often multifactorial, copy number variations (CNVs) play a significant role, particularly in syndromic cases.
• The diagnostic yield of genetic testing for CHDs remains suboptimal in many cases.

Purpose of the Study:

• To evaluate the diagnostic utility of chromosomal microarray analysis (CMA) for identifying CNVs in syndromic and non-syndromic CHDs.
• To determine the prevalence of pathogenic/likely pathogenic CNVs in different CHD cohorts.
• To identify potential novel genetic loci associated with CHDs.

Main Methods:

• Retrospective analysis of 85 patients with CHDs who underwent CMA.
• Categorization of patients into syndromic (n=55) and non-syndromic (n=30) groups.
• Statistical analysis using Chi-square and Mann-Whitney U tests to compare groups.

Main Results:

• Pathogenic/likely pathogenic CNVs were identified in 32.7% of syndromic cases and 6.7% of non-syndromic cases.
• CMA demonstrated significant diagnostic efficacy in identifying the etiology of CHDs.
• Age at admission was a statistically significant factor between the groups.

Conclusions:

• Chromosomal microarray analysis is a valuable tool for elucidating the etiology of congenital heart diseases.
• CMA significantly improves the diagnostic rate of CHDs, especially in syndromic cases.
• Further research may identify novel genetic loci through CMA in CHD patients.