Early and late onset fetal microphthalmia

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The purpose of this study was to present sonographic and pathologic findings in early and late onset fetal microphthalmia.

Study design

Fetal sonography was prospectively performed in 30,989 consecutive pregnancies at 14 to 24 weeks' gestation. In addition, we retrospectively reevaluated US recordings of 4 fetuses from other hospitals, in which normal eyes were observed in early and midgestation and microphthalmia was diagnosed only in the third trimester of pregnancy or after birth.


Microphthalmia was detected in 13 fetuses in the prospective group. Twelve of 13 had additional structural and chromosomal anomalies. Termination of pregnancy was performed in 12 cases. In the retrospective group of late onset microphthalmia we confirmed the normal eye measurements performed in the early and midpregnancy. Severe vision impairment or blindness was noted in 3 of these children, while the fourth pregnancy was terminated.


Normal measurements of the fetal eyes in early and midpregnancy do not exclude the possibility of subsequent development of microphthalmia.

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