Antenatal Diagnosis of Alobar Holoprosencephaly

Abstract

A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a vital role due to its multiplanar capability and excellent soft tissue resolution. The importance of presenting this classical case of alobar holoprosencephaly is to sensitize the clinicians and radiologists to the imaging manifestations of holoprosencephaly and to stress the importance of early diagnosis. If diagnosed in utero at an early stage of pregnancy, termination can be performed and maternal psychological trauma of bearing a deformed fetus can be avoided.

Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d′Ivoire

“…[ 16 ] When the law allows it, these serious conditions are subject to medical termination of pregnancy. [ 17 ]…”

Cyclopia with proboscis: A rare congenital anomaly

“…This early diagnosis by fetal ultrasonography allows for timely termination of pregnancy and avoids maternal psychological trauma of giving birth to a deformed fetus. 16 , 17 Additionally, fetal MRI can help confirm the sonographic findings and detect any other additional anomaly. 18 However, in our case, the woman never had any antenatal checkups and the anomaly was diagnosed after the expulsion of the fetus.…”

Two Cases of Holoprosencephalies

“…The falx, interhemispheric fissure, corpus callosum, optic tracts, olfactory bulbs, and the septum pellucidum are absent. Absence of septum pellucidum may be associated with septooptic dysplasia, holoprosencephaly, corpus callosal agenesis, schizencephaly, Chiari-II malformation, hydranencephaly, porencephaly, and cephaloceles ( Figure 6) 5,6,10 . In present case of alobar holoprocencephaly septum pellucidum, falx cerebri and interhemispheric fissure were absent.…”

“…Postnatal MRI with diffusion fiber tractography may detect rare association of brain stem and long tract abnormalities in holoprosencephaly 10 . The lobar and middle hemispheric variants are not associated with significant abnormalities of the white matter tracts whereas the alobar and semilobar forms are associated with abnormalities of the medial lemniscus and the corticospinal tracts 10 .…”

“…Occipital horn was rudimentary and thalami and basal ganglia were partially separated. Fetal karyotyping is advisable in all the cases of holoprosencephaly as most of them are associated with chromosomal anomalies 9,10 .…”