First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus

Abstract

A 19-year-old woman was scanned at 10(+6) weeks gestation by 2D-3D ultrasound. The fetus had a crown-rump length of 40.9 mm, with the cephalic pole occupied by a single cystic cavity measuring 10.6 x 7.7 x 6.8 mm and severe hypotelorism associated with mid-facial hypoplasia. 3D ultrasound confirmed the malformations seen on the 2D scan and enabled the visualization of a proboscis and a low-set right ear. Fetal karyotyping was performed by chorionic villus sampling. Due to major fetal malformations of the fetus, the patient opted for termination of pregnancy. First trimester sonographic diagnosis of holoprosencephaly relies on bilateral visualization of choroid plexuses in what has been called the 'butterfly' sign. Differential diagnosis between holoprosencephaly and hydranencephaly may be difficult in the first trimester of pregnancy. However, midline structures such as falx cerebri, interhemispheric fissure and third ventricle are present in hydranencephaly and are absent in alobar holoprosencephaly, and thalami are never fused in hydranencephaly. 3D ultrasound has demonstrated an increased definition of anatomical abnormalities of malformations, compared with 2D ultrasound, and has proven to be crucial in the decision-making process of parents and in later prenatal counseling, especially in this case where necroscopy examination was refused by the parents. Images obtained by 3D ultrasound gave detailed insight into this ventral midline anomaly, depicting much of the disordered prosencephalic development.