ABSTRACT
We report a case of suspected fetal congenital glaucoma detected by prenatal ultrasound. The mother had no history of cold, medication, or radiation exposure in the first trimester. Routine prenatal ultrasound at 23 +2 weeks of gestation found a 2.5 mm ventricular septum defect, and the sagittal and transverse diameters of the left and right eyeballs were all greater than the normal range of the same gestational weeks, which were noted at 18.57 mm and 17.26 mm, 18.21 mm and 17.22 mm, respectively. Dynamic observation revealed that the bilateral eyelids were unable to close with cornea being exposed to amniotic fluid. The pregnancy was terminated at 23 +6 weeks and a stillborn female weighing 650 g was delivered two days later. Congenital glaucoma was highly suspected by postnatal ophthalmic examination, accompanied by a deformity of the left thumb. No abnormality was detected on fetal chromosome karyotyping or whole-exon sequencing. When unilateral or bilateral megalophthalmos in the fetus is detected by prenatal ultrasound, congenital glaucoma should be considered.