Autosomal dominant cataracts of the fetus: early detection by transvaginal ultrasound

• DOI: 10.1046/j.1469-0705.1996.08020104.x
• Publication Date: 2003-03-12T23:03:05Z
• Authors: A. Monteagudo; I. E. Timor‐Tritsch; A. H. Friedman; R. Santos
• Keywords: Adult; Male; Infant, Newborn; Cataract; Ultrasonography, Prenatal; 3. Good health; Pedigree; Fetal Diseases; 03 medical and health sciences; 0302 clinical medicine; Pregnancy; Lens, Crystalline; Humans; Female; Follow-Up Studies

Abstract Cataracts are lens opacities that account for approximately 10% of blindness in children. We report on four consecutive pregnancies a woman at risk recurrent autosomal dominant cataracts which extensive ultrasound studies were helpful establishing the correct diagnosis. The normal appearance fetal is ring with central sonolucency, but cases appears hyperechogenic to various degrees. In first pregnancy, lenses seen 15 postmenstrual weeks and, birth, baby girl had lenses. second male fetus was affected by left‐sided cataract and right‐sided anophthalmia diagnosed 16 weeks. histological examination specimen from aborted correlated sonographic third also fetus, bilateral suspected 14 weeks, final diagnosis made 19 confirmed 21 couple opted terminate pregnancy histology presence congenital cataracts. fourth we asymmetry orbital sizes conclusion, trimester possible imaging should be part routine anatomical survey. Since exact onset uncertain present, risk, serial sonograms may indicated. Copyright © 1996 International Society Ultrasound Obstetrics Gynecology