Case of the Week #514

Frantisek Grochal

AffiliationFemicare, Center of prenatal ultrasonographic diagnostics, Kollarova 17/A, 036 01 Martin, Slovak Republic

Posting Dates: February 13, 2020 - February 27, 2020

Case report:  A woman with unremarkable history was sent to our unit for routine first trimester screening.  The following images are typical of specific anomaly. What is the diagnosis?

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Answer

We present a case of Triploidy.

The following images show a striking disproportion between the fetal head size (which is larger than normal for the gestational age) and fetal body, which is typical of triploidy.

  • 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.
  • Image 5: Tomographic Ultrasound Imaging, showing a cystic image in the posterior fossa.
  • Images 6: 3D rendering of the fetus with triploidy.

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