Echogenic intracardiac focus (EIF) is a small bright spot seen in the baby’s heart on an ultrasound

Ultrasound

Ultrasound is cyclic sound pressure with a frequency greater than the upper limit of human hearing. Ultrasound is thus not separated from "normal" sound based on differences in physical properties, only the fact that humans cannot hear it. Although this limit varies from person to person, it is...

 exam. This is thought to represent mineralization, or small deposits of calcium, in the muscle of the heart. EIFs are found in about 3-5% of normal pregnancies and cause no health problems.

EIFs themselves have no impact on health or heart function. Often the EIF is gone by the third trimester. If there are no problems or chromosome

Chromosome

A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...

 abnormalities, EIFs are considered normal changes, or variants.

Association with birth defects

Researchers have noted an association between an EIF and a chromosome problem in the baby. Types of chromosome problems that are occasionally seen include Trisomy 18 (Edward's syndrome) or Trisomy 21 (Down syndrome). In the case of an isolated EIF, and no other ultrasound findings, some studies show that the risk for a chromosome abnormality is approximately two times a woman’s background risk. Other studies report up to a 1% risk for Down syndrome

Down syndrome

Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...

 when an EIF is seen on a second trimester fetal ultrasound exam.

A clue to chromosome problems

An EIF is one clue which can contribute to the chances of a chromosome problem existing. Generally the risks are low if there are no other risk factors. Many babies with chromosome problems do not show any signs on ultrasound. Other factors are discussed in counseling include:

• Mother's age at the expected date of delivery
• The results of the Expanded AFP blood triple test
  Triple test
  The triple test, also called triple screen, the Kettering test or the Bart's test, is an investigation performed during pregnancy in the second trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities .The term "multiple-marker screening test" is sometimes used...
  
  
• Evidence of other "fetal findings" seen at on the ultrasound that suggest a chromosome problem.

Options

[See recommedations of Beth Israel Deaconess Hospital (Harvard Medical School): http://www.bidmc.org/Research/Departments/Radiology/Ultrasound/aneuploidy/EchogenicCardiacFoci.aspx

Amniocentesis

Amniocentesis

Amniocentesis is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is examined for...

 is a test to check a baby's chromosomes. A small amount of amniotic fluid, which contains some fetal cells, is removed and tested. Amniocentesis is very accurate; however, there is a risk of miscarriage. Results take about two weeks. A normal amniocentesis result means the EIF is not significant and there would be no other concerns about it.

Summary

An EIF in the fetal heart may indicate an increased chance of the baby having a chromosome problem. It does not affect the development of the baby or the function of the heart. If the baby has normal chromosomes, there would be no associated problems to be concerned about. No special treatment or tests are needed at delivery.

It is important to remember that chances are strongly in your favor of a normal outcome in this pregnancy, but with this additional clue, you are entitled to further counseling and testing options.