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E. H. Leung, A. M. Berrocal; Prenatal Ultrasonographic Detection of Ophthalmic Diseases. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4365.
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To describe the utility of prenatal ultrasonography as a tool in early detection of fetal ocular abnormalities.
A non-comparative, retrospective review of four neonates with abnormal intrauterine sonograms suggestive of ocular or orbital pathology.
In all four patients, echographic findings suggestive of ophthalmic pathology were detected but without diagnostic certainty. A large heterogeneous orbital mass detected in a fetus at 34 weeks of gestation was revealed to be infantile fibrosarcoma on postnatal excision of the tumor. A retrolental fibrovascular stalk detected at 23 weeks gestation that failed to regress on serial obstetrical ultrasounds was confirmed on ophthalmic exam as persistent hyperplastic primary vitreous/persistent fetal vasculature. An ultrasound at 13 weeks revealing hypoplastic eyes and later malformed extremities was confirmed on autopsy to be Fraser syndrome. Globe size asymmetry noted by prenatal ultrasound at 23 weeks gestation was found on postnatal sonograms to be microphthalmia with coloboma and retrobulbar cyst.
High resolution antenatal ultrasonography permits early detection of fetal ophthalmic abnormalities but does not yield definitive diagnoses. These early findings could influence the obstetrician’s approach to delivery and serve to mobilize pediatricians and ophthalmologists to provide timely intervention upon delivery.
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