Case of the Week # 514

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Frantisek Grochal, MD1

February 13, 2020 - February 27, 2020

1 Femicare, Center of prenatal ultrasonographic diagnostics, Kollarova 17/A, 036 01 Martin, Slovak Republic;

Case report

A woman with unremarkable history was sent to our unit for routine first trimester screening.

Following images are typical of specific anomaly. What is the diagnosis?

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Answer

Case report

A woman with unremarkable history was sent to our unit for routine first trimester screening. 

Following images show a striking disproportion between the fetal head size (which is larger than normal for the gestational age) and fetal body. This is typical of triploidy, which was what this fetus had.

Images 1-4: 2D images of the fetal head, with a larger size than normal for gestational age and bigger than expected in comparison with the fetal body. 

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Images 5: Tomographic Ultrasound Imaging, showing a cystic image in the posterior fossa.

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Images 6: 3D rendering of the fetus with triploidy.

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