Related Experiment Video
Updated: Jun 27, 2026
State of the Art Cranial Ultrasound Imaging in Neonates
Published on: February 2, 2015
Universal screening for extracardiac abnormalities in neonates with congenital heart disease
Javier H Gonzalez1, Girish S Shirali, Andrew M Atz
1Department of Pediatrics, Cardiology, Medical University of South Carolina, Charleston, SC 29425-9150, USA. gonzalej@musc.edu
Insights
Extracardiac or genetic abnormalities (EGA) are common in neonates with congenital heart disease (CHD). Current screening is inconsistent, highlighting the need for a universal approach to identify these critical conditions.
Area of Science:
- Pediatric Cardiology
- Medical Genetics
- Neonatal Screening
Background:
- Extracardiac or genetic abnormalities (EGA) contribute significantly to morbidity in neonates with congenital heart disease (CHD).
- Current screening practices for EGA in neonates with CHD lack uniformity and consistency at many institutions.
- Understanding the prevalence and detection rates of EGA is crucial for optimizing patient care.
Purpose of the Study:
- To evaluate the current screening methods for extracardiac or genetic abnormalities (EGA) in neonates with congenital heart disease (CHD).
- To determine the diagnostic yield and cost-effectiveness of screening tests used for EGA detection.
- To assess the variability in screening protocols and their alignment with the prevalence of EGA across different CHD types.
Main Methods:
- Retrospective chart review of 223 neonates diagnosed with structural congenital heart disease (CHD).
- Categorization of neonates into six groups based on CHD type: univentricular, left-sided obstructive, right-sided obstructive, septal defects, conotruncal defects (CTD), and other.
- Analysis of the utilization and results of cranial ultrasonography (CUS), abdominal ultrasonography (AUS), and genetic studies (GS) for EGA screening.
Main Results:
- A high prevalence of EGA was observed across all CHD groups, with detection rates ranging from 32% to 42% for CUS, 32% to 69% for AUS, and 10% to 60% for GS.
- Approximately 50% of neonates with CHD were identified with at least one EGA.
- Significant variability existed in the proportion of patients undergoing screening tests, with inconsistent correlation between screening consistency and the likelihood of abnormal findings. The cost-yield ratio was $4,508 per identified EGA.
Conclusions:
- Screening for extracardiac or genetic abnormalities (EGA) in neonates with congenital heart disease (CHD) is currently non-uniform and often misaligned with the actual prevalence of these conditions.
- The high prevalence of EGA underscores the need for standardized screening protocols.
- A universal screening program utilizing cranial/abdominal ultrasonography and genetic testing is recommended for all neonates with CHD to improve early detection and management of EGA.
Abstract:
Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD. Subjects were categorized into 6 groups: univentricular, left-sided obstructive lesions, right-sided obstructive lesions, septal defects, conotruncal defects (CTD), and other. We reviewed which patients underwent cranial ultrasonogram (CUS), abdominal ultrasonogram (AUS), and/or genetic studies (GS) as well as their results. There was a high prevalence of EGA in each group by CUS (32% to 42%), AUS (32% to 69%), and GS (10% to 60%). There was considerable variability in the proportion within each group that underwent screening tests, and the consistency of screening often was not congruent with the likelihood of abnormal results. Approximately 50% of our patients had >/=1 EGA identified, resulting in a cost-yield ratio of $4,508/patient with EGA. Screening for EGA at our institution is not uniform and is often at odds with the prevalence of such patients. Given the high prevalence of EGA, we advocate for a universal screening program for neonates with CHD using cranial/abdominal ultrasonography and genetic testing.
More Related Videos
Related Concept Videos
01:20Imaging Studies for Cardiovascular System II:Types of Echocardiography
Types of Echocardiography
Transthoracic Echocardiography (TTE)
TTE is the most common type of echocardiogram which involves placing a transducer on the patient's chest, emitting sound waves to create heart images. TTE is invaluable for evaluating the heart's size, structure, and motion, making it particularly useful for diagnosing...
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...
01:17Imaging Studies for Cardiovascular System I:Echocardiography
Indications: Echocardiography is utilized to diagnose heart failure, valve disorders, and myocardial infarction. It also assesses cardiac structures' size, shape, and motion, evaluates...
01:30Dysrhythmias V: Evaluating Dysrhythmias
01:28Imaging Studies for Cardiovascular System V: CT
01:28Cardiac Catheterization I: Pre-Procedure Overview