Holoprosencephaly, semilobar

Lech Dudarewicz, MD

Poland

This is a case of 36-year-old patient with history of ectopic pregnancy and infertility. She became pregnant after intrauterine insemination. The ultrasound scan performed at 12 weeks of pregnancy revealed semilobar holoprosencephaly, cleft lip and palate, abnormal heart, and sacral mass. Karyotyping showed trisomy 13.

Coronal and axial scans of the fetal head showing the holoprosencephaly and the facial irregularity from the cleft

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Cleft lip and sagittal plane with normal NT

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Sacral region of the fetus with sacral mass

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These are some videos that we obtained:

Head of the fetus with semilobar holoprosencephaly (left) and cleft palate (right).

Abnormal fetal heart (left) and sacral region (right) of the fetus with sacral mass.

Nuchal region - normal

 

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