Congenital Heart Disease (CHD)NCT07204509
Chromosomal Abnormalities in Patients With Congenital Heart Disease at Assiut University Children's Hospital
An observational study of Congenital Heart Disease (CHD) and Chromosomal Abnormalities, run by Assiut University.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 month to 18 years
- Conditions the study is for
- Congenital Heart Disease (CHD), Chromosomal Abnormalities
- What is being tested?
- Conventional Karyotyping
- How many people
- 138 participants
- Where
- No sites listed yet
- Study dates
- 1 Oct 2025to 1 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study 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.
Who may be able to join
- 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.
Who cannot join
- 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 locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Incidence of Chromosomal Abnormalities in Patients With Congenital Heart Diseases Attending Assiut University Children's Hospital
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.
Read the detailed description
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.
- Being tested
- Conventional Karyotyping
- Keywords
- Karyotyping, gentic disease
- Medical subject headings
- Heart Defects, Congenital, Chromosome Aberrations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Conventional KaryotypingDiagnostic test
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.
| Study group | Role | What they receive |
|---|---|---|
| Children with Congenital Heart Disease | This cohort includes pediatric patients with a confirmed diagnosis of congenital heart disease (CHD) attending Assiut University Children's Hospital and Elmabara Insurance Hospital. All participants underwent clinical evaluation, dysmorphic feature assessment, and cytogenetic testing (karyotyping) to detect chromosomal abnormalities. No therapeutic interventions were applied as part of this study; data were collected for observational and genetic analysis purposes only. Receives: Diagnostic Test: Conventional Karyotyping |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: At enrollment (karyotype performed at baseline during the study period: September 2025 - September 2026)
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.
Measured: At enrollment (karyotype performed at baseline during the study period: october 2025 - October 2026)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Oct 2025
- Study start1 Oct 2025 (estimated)
- Primary completion1 Oct 2026 (estimated)
- Study completion1 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Congenital Heart Disease (CHD)Studies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 138 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Alyaa Ramadan Ibrahim, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07204509
- Sponsor's protocol ID
- AUN-CHD-Genetics-2025
- Status last verified
- Sep 2025
- First submitted
- 25 Sep 2025
- Last updated
- 2 Oct 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
S. Zaidi and M. Brueckner, "CHD Epidemiology: Evidence for Genetics Underlying CHD Congenital Heart Disease Compendium Genetics and Genomics of Congenital Heart Disease," 2017,
Wang H, Lin X, Lyu G, He S, Dong B, Yang Y. Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis. Arch Gynecol Obstet. 2023 Sep;308(3):797-811. doi: 10.1007/s00404-023-06910-3. Epub 2023 Jan 7.
PubMed 36609702Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606.
PubMed 30571578
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Incidence of Chromosomal Abnormalities in Patients With Congenital Heart Diseases Attending Assiut University Children's Hospital
- ClinicalTrials.gov ID
- NCT07204509
- Acronym / sponsor ID
- AUN-CHD-Genetics-2025
- Keywords
- Karyotyping, gentic disease
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 138 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 1 Oct 2025 (estimated)
- Primary completion
- 1 Oct 2026 (estimated)
- Study completion
- 1 Dec 2026 (estimated)
- First posted
- 2 Oct 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Children with Congenital Heart Disease | – | Diagnostic Test: Conventional KaryotypingThis cohort includes pediatric patients with a confirmed diagnosis of congenital heart disease (CHD) attending Assiut University Children's Hospital and Elmabara Insurance Hospital. All participants underwent clinical evaluation, dysmorphic feature assessment, and cytogenetic testing (karyotyping) to detect chromosomal abnormalities. No therapeutic interventions were applied as part of this study; data were collected for observational and genetic analysis purposes only. |
Who may qualify
- Ages
- 1 month to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Conventional KaryotypingConventional 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. | Diagnostic test | Children with Congenital Heart Disease |
Primary outcome
Incidence of Chromosomal Abnormalities among Children with Congenital Heart Disease
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.
Incidence of Chromosomal Abnormalities among Children with Congenital Heart disease
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2025.
- Results publicationS. Zaidi and M. Brueckner, "CHD Epidemiology: Evidence for Genetics Underlying CHD Congenital Heart Disease Compendium Genetics and Genomics of Congenital Heart Disease," 2017,
- Results publication: PubMed 36609702Wang H, Lin X, Lyu G, He S, Dong B, Yang Y. Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis. Arch Gynecol Obstet. 2023 Sep;308(3):797-811. doi: 10.1007/s00404-023-06910-3. Epub 2023 Jan 7.
- Results publication: PubMed 30571578Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606.
- Individual participant dataSharing planned: No
Related trials for Congenital Heart Disease (CHD)
Not yet recruiting
Autologous Thymus Transplant in Children With Congenital Heart Disease: A Pilot Study
Congenital Heart Disease (CHD)
Active, not recruiting
Learning by Heart: The Effectiveness of an EF Training Program for Pre-schoolers With Critical CHD
Congenital Heart Disease, Executive Dysfunction
Not yet recruiting
UltraTrac for Cardiac Output Monitoring in Congenital Heart Disease
Congenital Heart Disease, Cardiac Output
RecruitingPhase 1/2
Butyric Acid Supplementation for Gut Improvement After Cardiac Surgery in Kids
Congenital Heart Disease (CHD)
Not yet recruiting
Starry-Sky Projection and Maternal Voice for Sleep After Pediatric Cardiac Surgery
Congenital Heart Disease (CHD), Postoperative Sleep
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Heart Disease (CHD) and Chromosomal Abnormalities, run by Assiut University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 2 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Alyaa Ramadan Ibrahim, resident (01004231328, ramadanalyaa58@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of Chromosomal Abnormalities among Children with Congenital Heart Disease (time frame: At enrollment (karyotype performed at baseline during the study period: September 2025 - September 2026)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07204509, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2025.