What is the management plan for echogenic foci in the left ventricle identified during an anomaly scan?

Management of Echogenic Foci in the Left Ventricle on Anomaly Scan

For patients with an isolated echogenic intracardiac focus (EIF) in the left ventricle and negative prior aneuploidy screening (serum or cell-free DNA), no further evaluation is required—this is a normal variant with no clinical significance and no indication for fetal echocardiography, follow-up ultrasound, or postnatal evaluation. 1

Initial Assessment and Confirmation

• Verify the finding is truly isolated by ensuring no other fetal structural anomalies, growth restriction, or additional soft markers are present on detailed obstetrical ultrasound examination 1
• Confirm proper diagnostic criteria: The EIF should be a small (<6 mm) echogenic area as bright as surrounding bone, visualized in at least 2 separate planes 1
• Document location: Left ventricular EIFs are most common (92-93% of cases) and represent microcalcifications of papillary muscles, not structural cardiac abnormalities 1, 2, 3

Management Based on Prior Aneuploidy Screening Status

If Patient Has Had Negative Aneuploidy Screening (Serum or cfDNA):

• No further evaluation is needed 1
• No fetal echocardiography is indicated 1
• No follow-up ultrasound imaging is required 1
• No postnatal cardiac evaluation is necessary 1
• Reassure the patient that isolated EIF is a normal variant occurring in 3-5% of karyotypically normal fetuses 1

If Patient Has Not Had Prior Aneuploidy Screening:

• Provide counseling to estimate the probability of trisomy 21 1
• Offer noninvasive aneuploidy screening with cell-free DNA testing, or quad screen if cfDNA is unavailable or cost-prohibitive 1
• Do NOT recommend diagnostic testing (amniocentesis) solely for this indication 1
• Note the minimal risk: Isolated EIF has a positive likelihood ratio for trisomy 21 ranging between 1.4-1.8, with one meta-analysis showing 0.95 (essentially no association) 1

Ethnic Variation in Prevalence

• Recognize ethnic differences in EIF prevalence: 8.1% in Middle Eastern women, 6.9% in Asian American women, 6.7% in African American women, 3.4% in Hispanic women, and 3.3% in White women 1
• Asian populations may have prevalence estimates up to 30% in some studies 1
• This variation does not change management but helps contextualize the finding during counseling 1

Key Counseling Points

• EIFs are NOT cardiac malformations and are not associated with congenital heart defects in the fetus or newborn 1
• The pathogenesis is unclear but likely represents normal variant development of papillary muscles with mineralization 1, 3, 4
• Characteristics of the EIF (size, number, laterality, persistence) should not be used to modify risk assessment 1
• Natural history: EIFs typically persist throughout pregnancy and may remain visible on postnatal echocardiography without clinical consequence 4

Common Pitfalls to Avoid

• Do not order fetal echocardiography for isolated EIF—this is unnecessary and increases healthcare costs without benefit 1
• Do not recommend amniocentesis based solely on EIF finding, especially after negative screening 1
• Do not schedule follow-up ultrasounds to monitor the EIF—it has no prognostic significance 1
• Avoid creating unnecessary anxiety in patients who previously declined aneuploidy screening; some practices may choose not to discuss isolated EIF in this context unless the patient specifically requests information 1

Special Considerations for Patients Who Previously Declined Screening

• Establish a standardized protocol in your practice for how isolated soft markers will be documented and managed in patients who declined aneuploidy screening 1
• Inform patients before the ultrasound about how findings will be handled to enhance shared decision-making and patient autonomy 1
• Some practices may treat isolated EIF as a normal variant and not discuss it with patients who declined screening, while others may use it as an opportunity to re-offer aneuploidy evaluation 1
• Individualize based on patient's age-related risk for aneuploidy and clinical context 1