Prenatal ultrasound diagnosis of fetal microphthalmia

Objective To analyze the ultrasonic features, associated malformations and combined genetic abnormalities of microphthalmia . Methods The characteristics of 15 cases of fetal microphthalmia were retrospectively analyzed. And the proportion of fetal microphthalmia associated malformations were further assessed according to the different organ system. Results All the orbital diameters of affected eyes of the 15 cases were less than the 5th centile of normal fetal orbital diameter corresponding to gestational age. In which, 26.67%(4/15) fetuses had additional ocular defects, and 66.67%(10/15) were diagnosis with extrocular defects, including 20.00%(3/15) with central nervous system defects, 13.33%(2/15) with orofacial defects, 26.67% (4/15) with cardiac defect, 13.33%(2/15) with limb defect, 33.33% (2/15) with urogenital defect and 40.00%(6/15) with abnormal ultrasonographic soft markers. And the proportion of fetal microphthalmia associated extrocular defects showed no significant difference(P=0.502). Conclusions Fetal microphthalmia is frequently associated with random and sporadic occurrence of extrocular defects Key words: Ultrasonography; Prenatal diagnosis; Microphthalmia; Associated malformations