Review Showed That Better Screening Is Still Needed for a Minority of Severe and Critical Congenital Heart Defects

Alf Meberg1

  • 1Association for Children With Congenital Heart Disease, Oslo, Norway.

Insights

Effective screening for severe congenital heart defects (CHDs) before hospital discharge is crucial. While prenatal ultrasounds, pulse oximetry (POX), and clinical exams improve detection, challenges remain in identifying all critical CHDs.

Area of Science:

  • Neonatal care
  • Pediatric cardiology
  • Medical screening

Background:

  • Congenital heart defects (CHDs) are a significant concern in neonates.
  • Early detection of severe and critical CHDs before hospital discharge is vital for infant outcomes.
  • Current screening methods include prenatal ultrasound, postnatal pulse oximetry (POX), and clinical examinations.

Purpose of the Study:

  • To review the effectiveness of prenatal ultrasound, postnatal pulse oximetry (POX), and clinical examinations for detecting severe and critical congenital heart defects (CHDs) in neonates.
  • To analyze detection rates and identify challenges in current screening strategies.

Main Methods:

  • Systematic review of studies published between 2005 and 2025.
  • Emphasis on studies from Nordic countries.
  • Analysis of detection rates for different screening modalities.

Main Results:

  • Prenatal detection rates for CHDs ranged from 42%-46%.
  • Postnatal pulse oximetry (POX) detected 11%-47% of CHDs when prenatal cases were excluded.
  • Clinical examinations identified 39%-58% of CHDs when POX-detected cases were excluded.
  • Overall, 85%-89% of severe and critical CHDs were detected before discharge in infants born between 2014-20.

Conclusions:

  • Most severe and critical CHDs are identified before neonates are discharged.
  • Despite improvements, challenges persist in developing comprehensive screening methods to minimize missed cases.
  • Further research is needed to enhance screening protocols for congenital heart defects.
Abstract

Related Concept Videos

Imaging Studies for Cardiovascular System III: X-Ray01:20

Imaging Studies for Cardiovascular System III: X-Ray

The most common cardiovascular diagnostic test is an X-ray. It produces images of the heart, blood vessels, and adjacent structures.
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...
695
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
557
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
804
Cardiac Catheterization I: Pre-Procedure Overview01:28

Cardiac Catheterization I: Pre-Procedure Overview

Cardiac catheterization is an invasive diagnostic technique used to identify and evaluate structural and functional diseases of the heart and major blood vessels. This technique diagnoses congenital heart disease, coronary artery disease, valvular heart disease, and coronary spasms and assesses ventricular function. It helps guide treatment decisions, including the need for revascularization procedures like percutaneous coronary intervention (PCI) or coronary artery bypass grafting (CABG) and...
3.4K
Imaging Studies for Cardiovascular System V: CT01:28

Imaging Studies for Cardiovascular System V: CT

Cardiac computed tomography (CT) scanning is an advanced cardiac imaging technique that utilizes CT technology, with or without intravenous (IV) contrast, to produce accurate cross-sectional virtual slices of specific areas of the heart, coronary circulation, and major blood vessels such as the aorta, pulmonary veins, and arteries. The computer processes these slices to generate three-dimensional images. Multidetector CT (MDCT) is a rapid form of CT scanning that captures multiple slices...
658
Imaging Studies for Cardiovascular System I:Echocardiography01:17

Imaging Studies for Cardiovascular System I:Echocardiography

Cardiac imaging studies encompass a wide range of noninvasive and minimally invasive techniques designed to visualize the heart's structure and function in detail. One such technique is echocardiography, which uses high-frequency ultrasound waves to produce detailed images of the heart, known as echocardiograms.
Indications: Echocardiography is utilized to diagnose heart failure, valve disorders, and myocardial infarction. It also assesses cardiac structures' size, shape, and motion,...
999