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Any organ not demonstrated by ultrasound

(Regarding the stomach and gallbladder, see separate information sheets)

Types

Sometimes it can happen that some organs cannot be demonstrated by ultrasound examination. This can be because the pregnancy is a week earlier than estimated, or because the fetus is in a position that precludes completion of the examination. Sometimes the problem is technical, and it is known that ultrasound testing is more difficult the thicker the mother-s abdominal wall, i.e. the more obese she is, and also when the amount of amniotic fluid is less than normal.

Some fetal activities that should be examined by ultrasound are sometimes not observed - again, this may be for technical reasons, or simply because the fetus does not perform them at that exact time. These include hand opening and closing, urination, etc., which the fetus does not do continuously. Therefore the ultrasound scan should be repeated in order to look for whatever was not seen properly on the previous scan.

Regarding failure to detect the gallbladder on ultrasonography and failure to detect the stomach on ultrasonography, see separate information sheets.

Associated features that can be demonstrated in tests performed during pregnancy

If on repeat ultrasound examination the organs or fetal activities that were not seen on the previous scan are still not seen, 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. Additional tests can also be considered, such as chromosome analysis of the amniotic fluid or blood.


If the situation persists and the organ/activity is consistently not seen on repeated ultrasound scans, there is a high likelihood that the fetus has a defect.

In these cases 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, an expert in the field of the defect, for example a pediatric neurologist, 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?

This depends on the organ/activity in question and whether the failure to detect it on ultrasound examination is genuine.

The gene for the disease

Depends on the defect, if there is one (or more than one).

Location

Depends on the defect, if there is one (or more than one).

Genetic testing

Diagnostic testing

Depends on the defect, if there is one.

Carrier testing

Depends on the defect, if there is one.

Fetal testing

Depends on the defect, if there is one.
 
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