title: Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association.
abstract: CHARGE association has been diagnosed postnatally in increasing numbers since the first description in 1979. The acronym CHARGE includes the abnormalities ocular Colobomas (iris, retina or nervus opticus), Heart disease, Atresia of choanae, Retarded growth and development and/or central nervous system anomalies, Genital hypoplasia, Ear anomalies and deafness. So far, no prenatal diagnosis of the CHARGE association has been described; only one case report presents prenatal symptoms detected at 31 gestational weeks. In our case, prenatally detected mild cerebral ventriculomegaly and dysplasia of choroid plexus were abnormalities visible as early as 15+6 weeks as well as mild cerebellar hypoplasia at 21+1 weeks. At 28+6 weeks, in addition polyhydramnios could be found. The combination of the 'benign' central-nervous findings raised suspicion of a severe congenital malformation at 21+1 weeks which was confirmed postnatally in the form of diagnosis of CHARGE association.
authors.affiliation: Department of Obstetrics and Gynaecology, University Clinic Benjamin Franklin, Free University of Berlin, Berlin, Germany. bedaktari@t-online.de
authors.forename: R
authors.initials: R
authors.lastname: Becker
authors.forename: B
authors.initials: B
authors.lastname: Stiemer
authors.forename: L
authors.initials: L
authors.lastname: Neumann
authors.forename: M
authors.initials: M
authors.lastname: Entezami
mesh_terms: D000328:Adult; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002831:Choroid Plexus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005865:Gestational Age; D006311:Hearing Disorders / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D014786:Vision Disorders / Q000150:complications