Prenatal ultrasound diagnosis of fetal microphthalmia / 中华超声影像学杂志

ABSTRACT

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