Diagnostic Performance and Clinical Impact of Point-of-Care Echocardiography for Early Detection of Neonatal Cardiac Lesions: A Systematic Review

Abstract

Background

Congenital heart disease (CHD) remains a leading cause of neonatal morbidity and mortality worldwide, with a significant proportion of cases remaining undetected before birth. While pediatric cardiologist-performed echocardiography represents the diagnostic gold standard, access to specialist services is limited across many neonatal care settings globally. Neonatologist-performed point-of-care echocardiography has emerged as a bedside diagnostic tool; however, the evidence supporting its diagnostic performance and clinical impact requires systematic evaluation.

Objective

To systematically review the diagnostic performance and clinical impact of point-of-care echocardiography performed by neonatologists or trained non-cardiologist clinicians for the early detection of cardiac lesions in neonates across diverse clinical settings.

Methods

A systematic search of PubMed and Google Scholar was conducted in April 2026, supplemented by reference list screening of all included studies (198 additional records screened), forward citation searches (32 additional records), and a supplementary Embase search conducted in August 2026 in response to peer review. Studies evaluating neonatologist-performed echocardiography in neonates aged 0–28 days, reporting diagnostic performance metrics or clinical impact outcomes with a cardiologist comparator or confirmed diagnosis as reference standard, were included. Methodological quality was assessed using the QUADAS-2 tool. Due to substantial clinical and methodological heterogeneity, findings were synthesized narratively in accordance with PRISMA 2020.

Results

Thirteen primary studies (2008–2026, including two ahead-of-print articles) from eleven countries encompassing over 31 800 neonates were included and synthesized across three domains: diagnostic performance and agreement, CHD detection capability, and clinical impact. Concordance between neonatologist and cardiologist echocardiography ranged from 91.15% to 97.9% (kappa 0.68–0.862). One population-based screening study reported sensitivity of 92% and specificity of 99.6%. No cases of missed major or critical CHD were reported in the included studies, although evidence remains limited and predominantly retrospective. Neonatologist-performed echocardiography was associated with management changes in 48%–66% of consultations involving structural or mixed cardiac assessment, and in up to 79% of consultations addressing hemodynamic indications alone (patent ductus arteriosus, pulmonary hypertension, systemic hypotension). Formal diagnostic accuracy data were limited to one study, and heterogeneity precluded meta-analysis.

Conclusion

Current evidence supports moderate-to-high diagnostic agreement and potential clinical utility of neonatologist-performed point-of-care echocardiography for identifying major and critical neonatal cardiac lesions. Evidence suggests this modality may be most appropriately utilized as an initial bedside triage and rule-in tool in settings where immediate pediatric cardiology access is limited. However, robust diagnostic accuracy data remain limited, and high-quality prospective multicenter validation studies are urgently required before definitive conclusions can be drawn.