This is a first post in a series that describes common differences or “soft markers” identified on prenatal ultrasounds. Soft markers are most often normal variations of fetal anatomy and do not cause any problems for the baby. However, because they can be associated with chromosome abnormalities, they often are a source of anxiety. Therefore it’s important to understand the implications.
What is an echogenic intracardiac focus?
An echogenic intracardiac focus (EIF) means that a bright spot was identified in the baby’s heart on prenatal ultrasound. The bright spot is thought to be caused by a small build up of calcium within the baby’s heart muscle. They most commonly occur as a single bright spot in the left ventricle of the heart, but can also be found in the right ventricle or occur in multiples.
How common is an EIF?
An EIF is quite common. It is estimated to occur in approximately 3-5% of all pregnancies and is even more common in certain ethnicities (occurs in 10-30% of pregnancies with Asian ancestry).
What risks are associated with an EIF?
An EIF does not cause any heart problems or other health concerns for the baby. It is most likely just a normal variation in a pregnancy.
An EIF is considered a “soft marker” for chromosome abnormalities, particularly Down syndrome. When the EIF is isolated (no other ultrasound differences identified), it is most likely a normal variant. Most babies with a chromosome abnormality will have other observable differences on the ultrasound (shortened long bones, heart defect, echogenic bowel, pyelectasis, ect.). Therefore if the EIF occurs along with other ultrasound differences, it likely raises the chances for a chromosome abnormality.
An isolated EIF is thought to only raise the risk for Down syndrome by 2-fold. Some studies have suggested the risk may increase further when multiple echogenic foci are identified, but this has not been validated in large studies. When determining your exact risk it is important to consider other factors such as maternal age, family history, and results from prenatal screening tests.
What do I do now?
If your baby had an EIF visualized on ultrasound your doctor may make a referral to see a specialist to have a targeted (level II) ultrasound. The targeted ultrasound will take a detailed head-to-toe anatomy view of the baby to look for other ultrasound differences. It is also important to confirm that the EIF is still there. It is possible that the EIF was a “false-positive” and is not visualized on subsequent ultrasounds. An EIF may resolve on its own or may have never been there in the first place (it can be easy to mistakenly diagnose). The visualization of an EIF can be hindered by several technical factors including fetal position and the ultrasound machine settings.
Depending on the situation, you may be offered additional testing options to better understand your personal risk for chromosome abnormalities such as Down syndrome. Testing options may include maternal serum screening (the quad screen), non invasive prenatal testing, and/or an amniocentesis. To learn more about these testing options see the prenatal testing overview page.
Genetic Counseling 
My wife, 22 weeks pregnant, just received a message from her doctor telling her that her detailed ultrasound showed signs of an Isolated Echogenic Intracardiac Focus. She had her NIPT tests done in the first trimester with negative results (no risk for chromosome abnormalities). The NT test also shows no abnormal results.
The doctor tells her that given these results, there is nothing to worry about for the IEIF, however we are interpreting this as a low probability, but still SOME probability. Is there a way to be reassured that this probability is really low? Is it unrealistic to expect 100% reassurance?
You’ll never have 100% reassurance, even if the EIF was not there.
However, I would feel extremely reassured with an isolated EIF, normal NT and low risk NIPT. The EIF is almost certainly a normal variant (which it is most of the time).