title: First- and second-trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases.
abstract: Ocular cataract, hypertelorism, hypotelorism, anophthalmos, and microphthalmos are rare malformations commonly associated with other fetal anomalies. Previously, ocular malformations were detected only after mid-gestation. Transvaginal sonography allows the detection of many structural fetal anomalies. We describe the case reports of eight ocular anomalies among 1600 fetal screenings by transvaginal sonography at 12-18 weeks' gestation. Severe cataract was correctly diagnosed by transvaginal sonography. However, transvaginal sonography failed to detect moderate cataract in a case of repeat cataract in a subsequent gestation. Anophthalmia may sometimes be secondary to a degenerative process in middle and late pregnancy. In five of the eight described cases, the eye malformations were associated with defects of the central nervous system.
authors.affiliation: Department of Obstetrics and Gynecology, Rambam Medical Center, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa.
authors.forename: M
authors.initials: M
authors.lastname: Bronshtein
authors.forename: E
authors.initials: E
authors.lastname: Zimmer
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: N
authors.initials: N
authors.lastname: Yoffe
authors.forename: H
authors.initials: H
authors.lastname: Meyer
authors.forename: Z
authors.initials: Z
authors.lastname: Blumenfeld
mesh_terms: D000328:Adult; D005124:Eye Abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal / Q000379:methods*