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
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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
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Not known to be hereditary.
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Penetrance
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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?
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No increased risk is known.
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Molecular genetic information
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The gene for the disease
Not known
Location
Not known
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Genetic testing
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Diagnostic testing
Not available
Carrier testing
Not available
Fetal testing
Ultrasound examination
only
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