This is a case of a 40 -year-old G3P2. The first pregnancy was uneventful. The second baby had a mosaic of trisomy 18. The baby was 8 years old at the time of the examination and was seriously affected. Could not walk or talk and was deaf. Both deliveries were via cesarean section.
The current pregnancy was uneventful. The first ultrasound screening was normal, NT 1 mm. The triple test was negative. Ventriculomegaly was diagnosed at 18 weeks of gestation and patient was referred to our antenatal unit. We diagnosed an alobar holoprosencephaly. Patient agreed on amniocentesis. The karyotype was normal. Patient did not wish for pregnancy termination and continued in her pregnancy.
The subsequent ultrasound was done at 29 weeks of gestation. Additional to the alobar holoprosencephaly, we have seen hypotelorism, single nostril and abnormal fetal profile.
Patient delivered via iterative cesarean section. The examination of the neonate confirmed our prenatal ultrasound diagnosis. The baby died few hours after delivery.
Images 1,2: 29 weeks, axial view of the fetal brain with monoventricle and fused thalami.
Images 3,4: Image 3 shows hypotelorism. Image 4 shows a single nostril.
Images 5,6: Images show a detail of single nostril.
Images 7,8: Abnormal fetal profile in 2D and 3D view.
Images 9,10: 3D images of the fetal face. Note the nose with the single nostril.