Akademik Veri Yönetim Sistemi
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, 2025 (ESCI, Scopus, TRDizin)
Objective: Congenital heart disease (CHD) is one of the most frequently encountered congenital anomalies, resulting in signif= icant mortality ratios. Early diagnosis of CHD is critical for effective disease management. Therefore, molecular approaches could pro= vide valuable insights into the differential and early diagnosis of CHD. In the present study, we evaluated the efficiency and out= comes of the chromosomal microarray (CMA) method in patients with clinically diagnosed CHD. Material and Methods: The study included 113 patients with CHD from a single center in T & uuml;rkiye. CMA was performed using the Agilent Technologies array comparative genomic hybridisation system. Variants were classified based on the guidelines of the American College of Medical Genetics and Genomics (ACMG). Results: Participants were classified as isolated (n=25) or syn= dromic CHD with additional conditions, including developmental delays, intellectual disabilities, growth retardation, other organ abnormalities, or dysmorphic features (n=88). CMA identified path= ogenic copy number variants (CNVs) in 12 patients (10.6%). All patients with pathogenic CNVs belonged to the syndromic group (12/88; 13.6%). The most common CNVs were in the 22q11.2 region. Additionally, three CNVs identified in two patients had unique breakpoints that had not previously been reported. Conclusion: The current study substantiated the findings reported in the literature and demonstrated the diagnostic efficacy of CMA, particularly in cases of syndromic CHD. This study is expected to offer new insights into the current literature through additional clinical findings and previously unreported CNVs.