Obstetrics and Gynecology Hospital, Brasov, Romania.

Case report

We report a case of alobar holoprosencephaly with proboscis diagnosed at 12 weeks of pregnancy. A 22-year-old G2P1 was referred to our department for 1st trimester ultrasound screening. Patient had no contributive personal or family history. While scanning the patient, the biparietal diameter (BPD) measured low. We diagnosed a proboscis as a sign of midline facial abnormality. Scan of the fetal head showed a central anechogenic brain structure, single primitive ventricle. Patient opted for pregancy termination due to a lethal prognosis for the fetus. Fetal karyotype was unfortunatelly not obtained.

Images 1,2: Image 1 shows a sagittal view of the fetus; Image 2 shows a protuberance arising from the fetal forehead, proboscis.

Images 3,4: Image 3 shows a sagittal view of the fetus with apparent proboscis, note arrow; Image 4 shows a transverse view of the fetal head with proboscis indicated by arrow.

Images 5,6: Images show a transverse view of the fetal head, note a central anechogenic mass indicating a single primitive ventricle. 

Images 7,8: Image 7 shows a BPD measurement, note single ventricle; Image 8 shows the distance between orbits.