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CMECNE

Echogenic Intracardiac Focus – What is the Clinical Significance?

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Learning Objectives and CME/Disclosure Information

CLINICAL ACTIONS:

An echogenic intracardiac focus (EIF) is a relatively common finding, even in otherwise normal fetuses.  It is not a structural abnormality, but rather represents calcified deposits in the fetal heart that appear as bright spots on prenatal ultrasound.

When seen in isolation, with no other fetal abnormalities

  • If aneuploidy screening has not yet been done, then screening or diagnostic testing should be offered
  • If patient opts for aneuploidy testing and result is low-risk, no further evaluation is required
  • If patient opts for screening
    • Counsel patients that screening tests are not diagnostic and therefore there is still residual risk for chromosomal anomalies
  • If aneuploidy screen result is positive, refer for genetic counseling and consideration of diagnostic testing options

If other anomalies are detected:

  • ACOG guidance recommends offering invasive testing using microarray in the setting of fetal structural anomalies seen on prenatal ultrasound

SYNOPSIS:

An EIF is the presence of echogenic tissue in one or both of the cardiac ventricles, and is observed on the four chamber fetal cardiac view.  EIFs may also be referred to as a Papillary Muscle Calcification. EIFs are a fairly common second trimester subjective finding, seen in 4-7% of euploid fetuses and in 15-30% of fetuses with Trisomy 21/Down syndrome.  Multiple, bilateral or prominent EIFs are associated with slightly higher aneuploidy risk in some studies.

KEY POINTS:

  • Rarely associated with Down syndrome in the absence of other markers/anomalies
  • ACOG states that EIF is a ‘soft marker’ that has “little significance in the absence of an elevated pretest risk of fetal aneuploidy”
  • Follow-up sonogram is not indicated for an isolated echogenic intracardiac focus with normal aneuploidy screening results
  • EIFs generally resolve by the third trimester, irrespective of fetal outcome, and should not impact long term cardiac function

Learn More – Primary Sources:

ACOG Practice Bulletin 226: Screening for Fetal Chromosomal Abnormalities

ACOG Practice Bulletin 162: Prenatal Diagnostic Testing for Genetic Disorders

ACOG Practice Bulletin 175: Ultrasound in Pregnancy

ACOG Committee Opinion No. 682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology

Locate a Genetic Counselor or Genetics services:

Genetic Services Locator-ACMG

Genetic Services Locator-NSGC

Genetic Services Locator-CAGC

Locate a Maternal Fetal Medicine Specialist

Maternal Fetal Medicine Specialist Locator-SMFM

Take a post-test and get CME credits

2nd Trimester Ultrasound Reference Library, Now Available on Your Phone with ObGFirst

Learn More  »

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Related ObG Topics:

Genetic Counseling: Who to Refer and What They Should Expect
Down Syndrome / Trisomy 21: Clinical Findings and Prenatal Considerations
SMFM Guidance – The Role of Prenatal Ultrasound and NIPT 

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