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An echogenic intracardiac focus (EIF) is a small, bright area that is noticed in the heart of the developing fetus when performing an ultrasound exam on a pregnant woman. This area is thought to represent an area of mineralization (deposition of calcium) in the heart muscle.

Three to five percent of normal pregnancies present with the discovery of EIF and this is a normal variation in the heart of the fetus and causes no health-related problems for the fetus or the mother.

The EIF is usually gone by the third trimester and is considered a normal occurrence if there are no other problems or chromosomal abnormalities discovered.

EIF and birth defects 

Researchers have suggested an association between chromosomal abnormalities in fetuses and an EIF. The chromosomal issues that are sometimes seen with this cardiac lesion include:

  • Down syndrome (trisomy 21)
  • Patau syndrome (trisomy 13)

The researchers in other studies have shown that the presence of EIF by itself, without any other abnormal findings on the ultrasound exam, doubles the woman's background risk for her fetus developing chromosomal abnormalities. Other studies suggest there is a one percent risk for the fetus developing Down syndrome if an EIF is present in the second-trimester fetal ultrasound examination.

What is the association between EIF and chromosomal abnormalities? 

An EIF can possibly be one clue to the chances of a chromosomal abnormality existing in an affected fetus but the risk is extremely low that the former would be an indicative factor of the presence of the latter, especially if there are no other risk factors present.

There are other risk factors that would increase the risk of a chromosomal abnormality occurring such as:

  • Advanced maternal age during the pregnancy and at the time of delivery.
  • The results of the Expanded AFP blood triple test which is performed in the first trimester of the pregnancy.
  • Any findings on the ultrasound examination which would suggest the presence of a chromosomal abnormality.

What is the best way to determine if there are chromosomal abnormalities? 

If an EIF is discovered on an ultrasound exam, then the pregnant woman needs to be reassured that this is a normal occurrence and it won't affect the fetus' heart negatively in any way. It should be mentioned though that there is a small risk of a chromosomal abnormality arising but that a normal cell-free DNA test can be performed to reassure the future mother.

A more specific test would be to perform an amniocentesis where fluid from around the fetus is extracted and the fetal cells in it are analyzed for any chromosomal abnormalities. This procedure does involve the risk of a potential miscarriage occurring in 1 out of every 300 procedures.

A good way to summarize the link between an isolated EIF and chromosomal abnormalities is that the former's presence, when there are no other issues regarding the developing fetus or the pregnant woman is regarded as a low risk, is an absolutely normal situation and it does not confer an increased risk of the fetus developing a chromosomal abnormality.

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