What happens if a newborn fails the Critical Congenital Heart Disease (CCHD) screening?

Management of Newborns Who Fail CCHD Screening

When a newborn fails Critical Congenital Heart Disease (CCHD) screening, immediate comprehensive evaluation including echocardiography should be performed to rule out cardiac causes, as this represents a medical emergency requiring prompt intervention to prevent mortality and morbidity. 1

Understanding CCHD Screening Failure

A failed CCHD screening occurs when:

• Oxygen saturation is <95% in both pre-ductal (right hand) AND post-ductal (foot) measurements 1
• Screening remains abnormal after one retest (per updated 2025 AAP guidelines, only one retest is now recommended instead of two) 1

Immediate Management Algorithm

Step 1: Clinical Assessment

• Perform focused cardiorespiratory examination looking for:
  • Murmurs, abnormal pulses, respiratory distress, cyanosis 2
  • Signs of shock including poor perfusion and absent femoral pulses 3

Step 2: Diagnostic Evaluation

• Arrange for immediate echocardiography to rule out cardiac causes 1
  • This is essential as the sensitivity of pulse oximetry for CCHD is only 50-76% 1
• Consider other diagnostic tests based on clinical presentation:
  • Complete blood count, blood cultures if infection suspected 1
  • Chest radiograph if respiratory pathology suspected 2

Step 3: Stabilization Measures

• If CCHD is suspected before definitive diagnosis:
  • Consider prostaglandin E1 infusion to maintain ductal patency in suspected ductal-dependent lesions 3, 4
  • Avoid excessive oxygen administration in suspected duct-dependent systemic flow lesions 4
  • Carefully manage fluid therapy based on suspected cardiac lesion 4

Potential Diagnoses After Failed Screening

Failed screening may identify:

1. Core CCHD Conditions

• Ductal-dependent lesions requiring urgent intervention:
  • Hypoplastic left heart syndrome, coarctation of aorta, interrupted aortic arch 1
  • Tetralogy of Fallot, pulmonary atresia, transposition of great arteries 1

2. Secondary Non-Cardiac Conditions

• Respiratory disorders (pneumonia, persistent pulmonary hypertension) 1
• Infections including sepsis 1
• Other hypoxemic conditions 1

Important Considerations

Benefits of Early Detection

• Implementation of CCHD screening has decreased early infant deaths from CCHD by 33% 1
• Early detection reduces emergency hospitalizations for CCHD 1
• Even when CCHD is ruled out, screening can detect other clinically important conditions 1

Potential Pitfalls and Caveats

• False positives may occur, but most "false positives" actually identify clinically important non-cardiac conditions 1
• False negatives remain possible - CCHD should not be ruled out based solely on screening results 1
• Screening should be performed on room air (no supplemental oxygen) to avoid false negatives 1
• Accuracy may vary with skin pigmentation - this requires further study 1

Access to Care Considerations

• Telemedicine may facilitate care in areas without immediate access to pediatric subspecialty care 1
• Equitable access to echocardiography is essential for effective screening 1

Follow-up Care

• All infants with confirmed CCHD require referral to pediatric cardiology for management planning 3
• Surgical or catheter-based interventions are typically required within the first year of life 2
• Long-term follow-up is essential for monitoring outcomes 1