Related Experiment Video
Updated: Aug 19, 2026
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
Published on: May 5, 2018
New trends in chromosomal investigation in children with cardiovascular malformations
Ruth Schellberg1, Gesa Schwanitz, Lutz Grävinghoff
1Institute of Human Genetics, University Bonn, Germany.
Insights
Genetic testing in children with congenital heart defects revealed chromosomal abnormalities in 23% of cases. Subtelomeric screening identified new deletions, improving genetic counseling and patient prognosis.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Congenital cardiovascular defects (CCDs) affect approximately 1% of live births.
- Chromosomal aberrations are known to be associated with various congenital anomalies, including CCDs.
- Early and accurate genetic diagnosis is crucial for effective management and counseling.
Purpose of the Study:
- To investigate the prevalence of chromosomal aberrations in a cohort of children with congenital cardiovascular defects.
- To evaluate a multi-step diagnostic approach for detecting genetic abnormalities in this population.
- To assess the utility of subtelomeric screening as a diagnostic tool.
Main Methods:
- A cohort of 376 children with CCDs underwent a three-step diagnostic genetic investigation over 7 years.
- Conventional cytogenetic analysis was performed, excluding common trisomies.
- Fluorescence in situ hybridization (FISH) for microdeletions and subtelomeric screening were utilized.
Main Results:
- Conventional chromosomal aberrations were found in 8% of patients (excluding trisomies 13, 18, 21).
- Microdeletions were detected in 15% of patients, with 22q11.2 deletion being the most common (43 cases).
- Subtelomeric screening identified deletions in 9% of cases with additional clinical abnormalities.
Conclusions:
- A phased genetic investigation approach effectively detects a high rate of pathogenic karyotypes in children with CCDs.
- Subtelomeric screening is a valuable diagnostic method for identifying previously undetected chromosomal aberrations.
- Improved genetic diagnosis leads to more effective family counseling and precise patient prognostication.
Abstract:
We investigated a group of 376 children, seen over a period of 7 years with different types of congenital cardiovascular defects, to assess the presence of chromosomal aberrations. The diagnostic approach, achieved in 3 consecutive steps, revealed conventional chromosomal aberrations in 30 of the patients (8%) excluding trisomies 13, 18, 21. Fluorescence in situ hybridisation for microdeletions showed 51 microdeletions (15%), with 43 patients having deletions of 22q11.2, 7 patients with deletion of 7q11.23, and 1 patient with deletion of 4p16.3. In 23 patients with additional clinical abnormalities, we carried out a subtelomeric screening. This revealed, in two cases (9%), different subtelomeric aberrations, namely deletions of 1p and of 1q. Thus, subtelomeric screening proved to be a very valuable as a new diagnostic approach. Our approach to genetic investigation in three phases makes it possible to detect a high rate of pathologic karyotypes in patients with congenital cardiovascular malformations, thus guaranteeing more effective genetic counselling of the families, and a more precise prognosis for the patient.
Related Concept Videos
01:17Karyotyping
01:20Imaging Studies for Cardiovascular System III: X-Ray
Definition and Purpose
An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy