Prenatal diagnosis of bilateral anophthalmia by 3D reverse face view ultrasound and magnetic resonance imaging

Prenatal diagnosis of bilateral anophthalmia by 3D reverse face view ultrasound and magnetic resonance imaging

Author Araujo Junior, Edward Autor UNIFESP Google Scholar
Kawanami, Tatiana Emy Autor UNIFESP Google Scholar
Nardozza, Luciano Marcondes Machado Autor UNIFESP Google Scholar
Milani, Herbene Jose Figuinha Autor UNIFESP Google Scholar
Oliveira, Patricia Soares Autor UNIFESP Google Scholar
Moron, Antonio Fernandes Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Objective: Primary anophthalmia is a rare congenital malformation that affects 0.6/10,000 liveborn infants. It is usually associated with central nervous system malformations, aneuploidies, cytomegalovirus infection and mental retardation and it can also be part of genetic conditions such as Fraser, Goltz, Goldenhar, Waardenburg and Lenz syndromes. Neonatal prognosis depends on whether anophthalmia is an isolated malformation, or it is associated with other defects or part of a syndrome.Case Report: A healthy 43-year-old woman, G4 P3 with three previous healthy children, was referred to our clinic for a routine obstetric ultrasound at 28 weeks' gestation. the fetal eye globes and lenses could not be seen on two-dimensional (2D) ultrasound, which led to the diagnosis of bilateral congenital anophthalmia. No other fetal malformations were detected. At 30 weeks' gestation, a three-dimensional (3D) ultrasound was performed using the rendering mode and reverse face view. Using this technique, the absence of both eye globes could be clearly seen through a slit. 3D-ultrasound allowed the parents to better understand their child's problem and possible postnatal implications. Fetal magnetic resonance imaging (MRI) was also performed, to study the fetal cortex in more detail. This exam revealed right cerebral hemisphere sulci and gyri hypoplasia. At 41 1/7 weeks, she went into spontaneous labor and delivered vaginally a 3525 g male infant with Apgar scores of 9 and 10. Postnatal exams confirmed bilateral congenital anophthalmia.Conclusion: This is the first case report in the literature of prenatal diagnosis of bilateral anophthalmia using 3D reverse face view ultrasound and MIRE. Copyright (C) 2012, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved.
Keywords anophthalmia
magnetic resonance imaging
prenatal diagnosis
three-dimensional ultrasound
Language English
Date 2012-12-01
Published in Taiwanese Journal of Obstetrics & Gynecology. Taipei: Elsevier Taiwan, v. 51, n. 4, p. 616-619, 2012.
ISSN 1028-4559 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 616-619
Origin http://dx.doi.org/10.1016/j.tjog.2012.09.018
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000314905800018
URI http://repositorio.unifesp.br/handle/11600/35522

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