Chromosomal Abnormalities in Patients With Congenital Heart Disease at Assiut University Children's Hospital
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-18
SponsorAssiut University
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Children with a confirmed diagnosis of congenital heart disease (by echocardiography and/or cardiology evaluation).
Age between 1 month and 18 years.
Patients attending Assiut University Children's Hospital or Elmabara Insurance Hospital during the study period.
Informed consent obtained from parents or legal guardians.
Disqualifiers
Patients with acquired (non-congenital) heart disease.
Critically ill patients in unstable condition not suitable for blood sampling.
Incomplete clinical data or refusal of parents/guardians to participate.
Trial population
This study population consists of pediatric patients with congenital heart disease attending Assiut University Children's Hospital and Elmabara Insurance Hospital. Eligible children underwent detailed clinical evaluation, dysmorphic assessment, and cytogenetic testing (karyotyping) to determine the incidence and pattern of chromosomal abnormalities.
Trial design
Design model
Cohort
Time perspective
Cross-sectional
Treatments tested in this trial
Conventional Karyotyping
Diagnostic testConventional 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.
Treatment groups
138 Participants
are divided into 1 treatment groupGroup A: Children with Congenital Heart Disease1 intervention
Trial outcomes
Primary outcomes
1
Incidence of Chromosomal Abnormalities among Children with Congenital Heart Disease
Proportion of enrolled pediatric CHD patients with any chromosomal abnormality detected by conventional karyotyping of peripheral blood lymphocytes. Chromosomal abnormalities include numerical (e.g., trisomies, monosomies) and large structural rearrangements visible on karyotype.
Time frame
At enrollment (karyotype performed at baseline during the study period: September 2025 - September 2026)2
Incidence of Chromosomal Abnormalities among Children with Congenital Heart disease
Proportion of enrolled pediatric CHD patients with any chromosomal abnormality detected by conventional karyotyping of peripheral blood lymphocytes. Chromosomal abnormalities include numerical (e.g., trisomies, monosomies) and large structural rearrangements visible on karyotype.
Time frame
At enrollment (karyotype performed at baseline during the study period: october 2025 - October 2026)Locations
Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: