NCT Number: NCT07204509
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.
Trial opening soon.
Get Notified1 month–18 year
All sexes
Observational
Congenital heart disease (CHD) affects approximately 8-10 per 1,000 live births worldwide. Genetic factors, including chromosomal abnormalities such as trisomies and microdeletions, are strongly associated with the occurrence of CHD. Identifying such abnormalities is important for patient management, surgical planning, long-term prognosis, and genetic counseling.
This observational cross-sectional study will be conducted at Assiut University Children's Hospital (Pediatric Genetics Unit and Pediatric Cardiology Clinic) and Elmabara Insurance Hospital. A total of 138 children with confirmed structural CHD will be enrolled. Each patient will undergo:
Clinical evaluation including demographic data, detailed medical history, and physical examination.
Assessment of dysmorphic features and other congenital anomalies.
Cytogenetic evaluation using standard karyotyping to detect chromosomal abnormalities.
The primary outcome is to estimate the incidence of chromosomal abnormalities in children with CHD. Secondary outcomes include the correlation of specific chromosomal abnormalities with CHD subtypes and phenotypic features.
This study will contribute valuable data regarding the genetic background of CHD in Upper Egypt. The findings are expected to enhance the understanding of genotype-phenotype correlations, improve early diagnosis, and guide family counseling and preventive strategies.
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
Exclusion criteria
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.
Time frame: At enrollment (karyotype performed at baseline during the study period: September 2025 - September 2026)
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)
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.
Contact information is provided by the study sponsor or research team.
Assiut University
Other
Incidence of Chromosomal Abnormalities in Patients With Congenital Heart Diseases Attending Assiut University Children's Hospital
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
Published trials that share one or more normalized conditions with this study.
NCT07643168
Anxiety Disorders, Cardiovascular Abnormalities
View Trial DetailsNCT07582848
Cardiovascular Abnormalities, Cardiovascular Diseases
Phoenix, Arizona, United States
View Trial DetailsNCT07582861
Cardiovascular Abnormalities, Cardiovascular Diseases
Phoenix, Arizona, United States
View Trial DetailsNCT07574463
Cardiovascular Abnormalities, Cardiovascular Diseases
Hangzhou, Zhejiang, China
View Trial Details