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Published on: February 21, 2015
Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases
Zeynep Esener1, Kübra Ates2, Murat Ozturk3
1Departments of Medical Genetics, Faculty of Medicine, Balikesir University, Balikesir, Turkey.
Insights
Chromosomal microarray analysis effectively detects copy number variations in congenital heart disease (CHD) cases. This method is valuable for diagnosing syndromic and non-syndromic congenital heart diseases, improving diagnostic yields.
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.
Introduction:
Congenital heart diseases are a group of diseases present at birth, including anatomical and physiological abnormalities of the heart. They are the most common birth defects observed in the populations. The etiology is quite diverse. Although they mostly show a multifactorial inheritance pattern, chromosome abnormalities, copy number variations, single gene diseases, and environmental factors are involved in the etiology. Even though the etiology can be detected at a higher rate in syndromic cases, it has not been elucidated in most syndromic and non-syndromic cases. Our study aimed to detect copy number variations in syndromic and non-syndromic cases through chromosomal microarray analysis, to reveal the diagnostic value of the method, and to determine possible new loci.
Methods:
Patient files, photographs, and laboratory results of 85 cases (55 syndromic and 30 non-syndromic) who had congenital heart disease and chromosomal microarray analysis were retrospectively evaluated. The differences between the groups were analyzed with Chi-square and Mann-Whitney U tests.
Results:
Pathogenic/likely pathogenic copy number variations were detected in 32.7% (18/55) of the syndromic case group and 6.7% (2/30) of the non-syndromic case group. The diagnostic efficacy of chromosomal microarray analysis in the diagnosis and the age at the time of admission were statistically significant between groups.
Conclusion:
Our study suggest that the chromosomal microarray analysis is a valuable diagnostic tool to elucidate the etiology of congenital heart diseases.
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