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

ultrasound Ultrasound is sound waves with frequency, frequencies higher than the upper audible limit of human hearing range, hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hea ...

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 A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...

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 13 (

Patau syndrome Patau syndrome is a syndrome caused by a chromosome, chromosomal abnormality, in which some or all of the Cell (biology), cells of the body contain Trisomy, extra genetic material from chromosome 13 (human), chromosome 13. The extra genetic mater ...

) or trisomy 21 (

Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...

). 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

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 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 (and neu ...

* Evidence of other "fetal findings" seen on the ultrasound that suggest a chromosome problem.

Options

The best available evidence suggests that an isolated echogenic intracardiac focus in the fetus of an otherwise low risk woman does not confer an increased risk of fetal aneuploidy. Although some studies have reported that the number or location of echogenic foci affects the risk of fetal aneuploidy (higher risk with biventricular or right ventricular involvement), the general consensus is that these factors have not been proven to matter. When an echogenic intracardiac focus is identified in an otherwise normal second trimester fetus, a normal cell-free DNA test can be very reassuring and obviate the need for invasive testing.

Amniocentesis Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is ne ...

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 which occur in 0.5–1% of women who have amniocentesis. Results take about two weeks. A normal amniocentesis result means the EIF is not significant and there would be no other concerns about it. That is usually done between 15 and 20 weeks of pregnancy (during the second trimester).

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 with an isolated EIF, chances are strongly in favor of a normal pregnancy outcome, but the patient is entitled to further counseling and testing options.

References

{{DEFAULTSORT:Echogenic Intracardiac Focus Obstetrics Vertebrate developmental biology Medical ultrasonography Midwifery