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 are more commonly found in the left cardiac ventricle than in the right ventricle. EIFs have been associated with fetal chromosome abnormalities, particularly Down syndrome . In the case of an isolated EIF, the risk for a chromosome abnormality is approximately twice the patient's age-related risk. This risk increases with the addition of other ultrasound markers and other risk factors, such as advanced maternal age or an abnormal serum screening test. 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 Causes Chromosomal Abnormalities?
Chromosomes are the inherited structures in the cells of our bodies. There are 46 chromosomes in each cell, arranged into 23 pairs. Chromosome abnormalities involving a missing or extra chromosome are not inherited or caused by an exposure during pregnancy. Instead, they result from a chance mistake in cell division at the time of conception. This error is a random event that can occur in anyone's pregnancy, but it does occur more often as we age.
Individuals with Down syndrome have an extra #21 chromosome, thus three rather than two copies of chromosome 21. It is this extra genetic material that causes the features of Down syndrome, including mental retardation, a characteristic facial appearance, and other health problems.
What Happens After EIF Is Identified?
When an EIF is identified on ultrasound, there is the option for additional testing. Detailed ultrasound, to look for additional complications and/or birth defects, may be recommended depending upon the amount of detail that was obtained on previous ultrasounds. Amniocentesis to test for chromosome abnormalities in the baby, is also an option. Genetic counseling to review the implications of the EIF is available.
It is important to remember that EIFs are usually normal variants that would have no negative effect on the baby.