PRENATAL ULTRASONIC DIAGNOSTICS OF ABNORMALITIES OF THE ORGAN OF VISION


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Abstract

Aim. The objective of the present work was to evaluate the possibilities for the prenatal ultrasonic examination with a view to diagnostics of developmental abnormalities in the organ of vision and its accessory apparatus. Material and methods. A total of 1300 protocols of the comprehensive assessment of the ultrasonic picture of the orbital structures in the fetuses obtained between the 10th and 40th weeks of physiological pregnancy were available for the analysis. The screening of 1045 (80%) fetuses was carried out during the 10th-14th, 20th-24th, and 32nd -34th weeks of pregnancy. The data on 3026 fetuses with the prenatally diagnosed and postnatally verified congenital malformations were analyzed retrospectively for determining the frequency and the structure of the developmental disorders in the organ of vision. Results. The frequency of identification of congenital malformations of the organ of vision by means of prenatal echography of the fetal orbital structures was 0,262 per 1,000 full-term pregnancies. It was shown that the abnormalities in the position of the eyeballs (hypotelorism, hypertelorism, exophthalmos) are possible to diagnose during I and II trimesters of the pregnancy whereas the abnormalities of their size (microphthalmia) and number (anophthalmos, aphakia) are especially well apparent in the second half of the pregnancy; simultaneously, the abnormalities in the structure of the organs of vision (cataract), complicated disorders (cyclopia), and the abnormalties in the lacrimal sac (dacryocystocele) can be diagnosed. The abnormalities of the organ of vision and its accessory apparatus accounted for 2,8% of all congenital malformations. In the overall structure of congenital malformations, the orbital abnormalities most frequently occurred in the combination with the facial malformations (53-75%), nervous system disorders (75-78%), disturbances in the blood circulatory system (38-41%), and the diseases of the locomotor apparatus (43-63%). Conclusion. Prenatal expert ultrasonography performed in the optimal for the screening studies periods of pregnancy provides a highly efficacious (91%) tool for the diagnostics of congenital and hereditary malformations and developmental disorders including pathology of the orbit, eye, and its accessory structures.

About the authors

M. N Korlyakova

Diagnostic (Medical Genetic) Center

Saint-Petersburg, 194044, Russian Federation

Elvira I. Saidasheva

I.I. Mechnikov North-Western State Medical University

Email: esaidasheva@mail.ru
d-r. med. sci., professor for the Department of Ophthalmology, I.I. Mechnikov North-Western State Medical University, Saint-Petersburg, 191015, Rusian Federation. Saint-Petersburg, 191015, Russian Federation

D. V Voronin

Diagnostic (Medical Genetic) Center

Saint-Petersburg, 194044, Russian Federation

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