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Echogenic foci or calcifications in the umbilical cord, abdomen or stomach |
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For echogenic focus in heart, see separate information sheet.
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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.
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Inheritance pattern |
Not known to be hereditary.
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Penetrance |
Not known
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Associated features that can be demonstrated in tests performed during pregnancy |
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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.
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The decisions taken will depend on the severity of the problem, the presence of additional findings, etc.
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What is the risk of recurrence in a subsequent pregnancy? |
No increased risk is known.
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Molecular genetic information |
The gene for the disease
Not known
Location
Not known
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Genetic testing |
Diagnostic testing
Not available
Carrier testing
Not available
Fetal testing
Ultrasound examination only
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