Trisomy 18 and complex congenital heart disease: seeking the threshold benefit

Renee D Boss1, Kathryn W Holmes, Janyne Althaus

  • 1Department of Pediatrics, Johns Hopkins University School of Medicine, Johns Hopkins University School of Nursing, Baltimore, MD, USA. rboss1@jhmi.edu

Pediatrics
|June 5, 2013
PubMed

Insights

Prenatal diagnosis of complex congenital heart disease in trisomy 18 presented ethical challenges. Medical teams debated treatment burdens versus neonatal benefits, prompting an ethics consultation.

Area of Science:

  • Medical Ethics
  • Neonatal Cardiology
  • Prenatal Diagnosis

Background:

  • A fetus with trisomy 18 was diagnosed prenatally with ductal-dependent, complex congenital heart disease.
  • Parents requested exclusion of genetic diagnosis from medical decisions and full life-prolonging therapies for their infant.

Observation:

  • Conflict arose within the medical team regarding the threshold of neonatal benefit to justify maternal and neonatal treatment burdens.
  • A prenatal ethics consultation was requested to address the complex ethical dilemma.

Findings:

  • The case highlights the intricate ethical considerations in managing complex congenital heart disease in fetuses with chromosomal abnormalities.
  • Disagreements centered on balancing potential neonatal outcomes against the burdens of intensive medical interventions.

Implications:

  • Prenatal ethics consultations are crucial for navigating complex decisions in fetal medicine and congenital heart disease.
  • This case underscores the need for clear guidelines and communication protocols when parental wishes conflict with medical team recommendations.
  • It emphasizes the importance of considering quality of life and treatment burdens in neonatal care decisions.

Related Concept Videos

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...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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...
Mitral Stenosis III: Medical Management01:26

Mitral Stenosis III: Medical Management

Mitral stenosis, a condition marked by the narrowing of the mitral valve, necessitates an integrated approach for effective management. This approach includes preventative measures, medical therapy, and surgical interventions to reduce symptoms and prevent complications.PreventionPrevention of mitral stenosis primarily focuses on reducing the incidence of bacterial infections, particularly streptococcal infections, which can lead to rheumatic fever and subsequent valvular damage. Timely...
Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...