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Chromosomal Abnormalities in Patients With Congenital Heart Disease at Assiut University Children's Hospital
Sponsor: Assiut University
Summary
Congenital heart disease (CHD) is one of the most common birth defects and an important cause of infant morbidity and mortality. Many children with CHD also have underlying genetic abnormalities, particularly chromosomal abnormalities, which may affect their prognosis, management, and counseling. This study aims to determine the incidence and pattern of chromosomal abnormalities among children with CHD attending Assiut University Children's Hospital and Elmabara Insurance Hospital. Children with a confirmed diagnosis of CHD will undergo a detailed clinical assessment, including dysmorphic evaluation, followed by chromosomal analysis (karyotyping). The study will help identify the frequency and type of chromosomal abnormalities associated with CHD and their correlation with specific cardiac defects and phenotypic features. Understanding these genetic associations may improve diagnosis, early intervention, and family counseling, and provide useful information for risk stratification and prevention strategies in the Egyptian population.
Official title: Incidence of Chromosomal Abnormalities in Patients With Congenital Heart Diseases Attending Assiut University Children's Hospital
Key Details
Gender
All
Age Range
1 Month - 18 Years
Study Type
OBSERVATIONAL
Enrollment
138
Start Date
2025-10-01
Completion Date
2026-12-01
Last Updated
2025-10-02
Healthy Volunteers
No
Interventions
Conventional Karyotyping
Conventional chromosomal analysis was performed using karyotyping of peripheral blood lymphocytes. Standard cytogenetic techniques were applied to identify chromosomal abnormalities in pediatric patients with congenital heart disease. This diagnostic test was used solely for observational and genetic correlation purposes.