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Echogenic foci or calcifications in the umbilical cord, abdomen or stomach

For echogenic focus in heart, see separate information sheet.

Types

Echogenic foci in the various organs appear on ultrasonography as focal white spots. Such a focus can indicate an area of calcification or be a transient event in that tissue. It is common to see such foci in areas of organization of and recovery from a localized hemorrhage. It is unclear what other factors can cause these foci in different organs.

Often there are additional findings that indicate an increased risk in the fetus for blood clots and their emboli (fragments) in the bloodstream. These include elevated alpha-fetoprotein and/or hCg levels in the biochemical screening test, the presence of hemorrhage or blood clots in the placenta, evidence of clots in blood vessels, etc. To date, experience has shown that unless there is evidence of associated defects, there is usually no significant medical problem in cases where these foci are isolated findings, especially if they are in abdominal organs such as the stomach, spleen or liver. However, experience is limited and these foci and their significance have not been adequately studied. It is therefore important to monitor these pregnancies carefully, and consider referring these women for genetic counseling with the recommendation that they undergo investigations similar to those undertaken in cases of increased intestinal echogenesis.

Inheritance pattern

Not known to be hereditary.

Penetrance

Not known

Associated features that can be demonstrated in tests performed during pregnancy

It is important to refer the couple for genetic counseling, to which they should bring all data, including the results of other tests performed during the pregnancy such as alpha-fetoprotein, nuchal translucency, etc.

Within this the recommendation that they undergo investigations similar to those undertaken in cases of increased intestinal echogenesis will be discussed.

In cases where the foci appear to be significant and there is evidence of associated defects, it is advisable to refer the parents to a multidisciplinary clinic in a hospital for professional counseling by a geneticist, an expert in ultrasound examinations, a pediatric surgeon, and a neonatologist, in order to collate all the data and discuss the various risks in each specific case, the method of monitoring the fetus, possible intervention if indicated, etc.

The decisions taken will depend on the severity of the problem, the presence of additional findings, etc.

What is the risk of recurrence in a subsequent pregnancy?

No increased risk is known.

Molecular genetic information

The gene for the disease

Not known

Location

Not known

Genetic testing

Diagnostic testing

Not available

Carrier testing

Not available

Fetal testing

Ultrasound examination only

 
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