Transvaginal sonographic diagnosis of cataract in a fetus

Transvaginal ultrasonography is a relatively new technique for visualizing the orbits in a fetus of 4 to 5 cm. At fifteen weeks of gestation it is possible to recognize the lenses and the hyaloid arteries in the eyes, to diagnose structural malformations such as anophthalmos, microphthalmos, buphthalmos and moderate to severe cataract. In most cases cataracts were associated with intracranial defects. We describe a case where the sonographic diagnosis of fetal cataract was confirmed by histopathological examination. A 27-year-old woman had a routine transvaginal sonography at 15 weeks' normal gestation. Microphthalmos without a hyaloid artery and disorganization of the anterior chamber and lens consistent with cataract were demonstrated in the fetal left eye. In accordance with the parents' decision, the pregnancy was terminated a week later. Autopsy of the fetus was done and serial sections of the left eye were studied by light microscopy. Histopathological examination verified the sonographic diagnosis of fetal cataract in a microphthalmic eye. Associated findings included malformation of the anterior segment and retinal dysplasia.