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Echogenic focus in the fetus's heart (golf ball)

What is this and what is its significance?

An echogenic focus is an ultrasound reflection of the thickening of one of the tendonous cords that hold the heart valves. Such a thickening does not interfere with the normal functioning of the valves and it has no significance for the structure or functioning of the heart if no other heart defects are present.

It is relatively common. In about 5% of fetuses one or more echogenic foci, visible as bright spots in the ventricle of the heart, are detected by ultrasound. This spot usually appears in the left ventricle of the heart, but in some cases it is present in both ventricles. Because of its white color, it is called an echogenic focus or a golf ball (because of its shape).

Although the focus itself has no significance, a number of studies have shown that it indicates an increased statistical risk for a fetus with Down syndrome. Some studies have reported a two to fourfold increase in the risk. Conversely, there are other studies that have not demonstrated a significant increase in the risk for Down syndrome. The situation is different in cases where the echogenic focus is associated with other findings. In these cases there is a significant increase in the risk for chromosomal problems in general, not only for Down syndrome.

The echogenic focus as part of a group of parameters for evaluating the statistical risk for chromosome disorders

There are several parameters that establish the statistical probability for Down syndrome, so the presence of an echogenic focus can be considered as part of the aggregate of these parameters. Normal nuchal translucency, young maternal age, absence of other signs or defects on ultrasonography, and a normal biochemical screening result are all factors that indicate a significantly reduced risk for Down syndrome.

What should be done if this is diagnosed?

There are differing opinions. Amniocentesis (or chorionic villus sampling) is undoubtedly the only test that can categorically rule out chromosome disorders.

However, it is neither medically indicated nor recommended that every pregnant woman should undergo amniocentesis - only those who are at high risk of having a specific problem that can be examined by this test (see information sheet titled: Why is there no medical recommendation for amniocentesis in all cases?).

Most opinions hold that in the majority of the cases in which the echogenic focus in the heart is the sole finding, and taking into account the other parameters mentioned above, which do not raise the risk for a chromosome disorder, the weighted risk is not in the high-risk range for which amniocentesis is indicated.
However, it should be noted that at the present time there are no accurate statistical data that allow for a precise calculation of the weighted risk taking the results of all the tests into account.

For practical purposes:

A directed 3rd level ultrasound scan in order to look for additional defects should be performed in the 22nd week of pregnancy. If any other defects are found, then amniocentesis should be performed.

The "gold-standard" threshold for recommendation of amniocentesis is a risk of Down syndrome greater than 1:386 based on the results of the biochemical marker screening tests, and when the weighted risk is equal to or higher than this amniocentesis is generally recommended. However, the presence of an echogenic focus in the fetus's heart may statistically increase the risk of Down syndrome. Therefore in these cases some physicians suggest that this should be integrated with the results of the biochemical screening tests and the new threshold for recommending amniocentesis is a risk for Down syndrome of greater than 1:1000 in the biochemical marker screening tests. If other abnormal findings are also present, these guidelines are insufficiently established and the woman should be referred for genetic counseling.

In genetic counseling, the necessity for amniocentesis can be assessed. It is particularly important to recommend counseling in all cases where other signs or defects are present, because the risk for a chromosomal or other syndrome is then significantly increased, and the advisability of performing further tests should be discussed. In cases in which it is suspected that the echogenic focus is associated with the heart's muscular wall, it may be worth performing fetal echocardiography between the 22nd and the 24th week in order to rule out a tumor (a very rare condition).
 
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