Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association

Citation
R. Becker et al., Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association, FETAL DIAGN, 16(5), 2001, pp. 280-283
Citations number
12
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Reproductive Medicine
Journal title
FETAL DIAGNOSIS AND THERAPY
ISSN journal
1015-3837 → ACNP
Volume
16
Issue
5
Year of publication
2001
Pages
280 - 283
Database
ISI
SICI code
1015-3837(200109/10)16:5<280:MVMCHA>2.0.ZU;2-P
Abstract
CHARGE association has been diagnosed postnatally in increasing numbers sin ce the first description in 1979. The acronym CHARGE includes the abnormali ties ocular Colobomas (iris, retina or nervus opticus), Heart disease, Atre sia of choanae, Retarded growth and development and/or central nervous syst em anomalies, Genital hypoplasia, Ear anomalies and deafness. So far, no pr enatal diagnosis of the CHARGE association has been described; only one cas e report presents prenatal symptoms detected at 31 gestational weeks. In ou r case, prenatally detected mild cerebral ventriculomegaly and dysplasia of choroid plexus were abnormalities visible as early as 15+6 weeks as well a s mild cerebellar hypoplasia at 21+1 weeks. At 28+6 weeks, in addition poly hydramnios 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 associa tion. Copyright (C) 2001 S. Karger AG, Basel.