Echogenic Intracardiac Focus - Prenatal Genetics

Echogenic intracardiac focus (EIF) is defined as a small bright spot in the papillary muscle of the heart. EIFs are found in approximately 3-5% of pregnancies and are usually benign. They have been associated with fetal chromosome abnormalities, including Down Syndrome. EIF are considered a “soft marker” for Down syndrome, associated with a 1.4-1.8 fold increased risk for Down syndrome when an isolated finding. This risk increases with the addition of other ultrasound markers and other risk factors, such as advanced maternal age. EIFs have not been found to affect cardiac function, and in the absence of other anomalies and chromosome abnormalities, EIFs are considered normal variants. 

What Happens After EIF Is Identified? 

When an EIF is identified on ultrasound, there is the option for additional testing. A more detailed ultrasound, to look for additional anatomic information, may be recommended depending upon the amount of detail that was obtained on previous ultrasounds. Prenatal cell-free DNA screening (NIPS) is recommended if not yet performed. If the screening is reassuring (negative), no further diagnostic testing is recommended. Prenatal diagnostic testing by amniocentesis is, however, always available for any indication, to test for chromosome abnormalities during pregnancy. 

Genetic counseling to review the implications of the EIF is available. 

It is important to remember that EIFs are usually normal variants that have no negative effect on the baby.