title: Chromosomal findings in fetuses with ultrasonographically diagnosed ventriculomegaly.
abstract: Out of 1101 fetuses with prenatally diagnosed malformations and/or growth retardation 166 (15.1%) revealed a ventriculomegaly. Out of these 18 fetuses (10.8%) demonstrated a chromosomal disorder. Within the group of 97 fetuses with isolated hydrocephalus 6 (6.2%) revealed a chromosomal abnormality. Two fetuses among 29 (6.9%) with hydrocephalus and spina bifida as the only additional sign showed pathologic karyotypes. Among fetuses with additional malformations, 10 out of 40 (25.0%) had a chromosomal disorder. Our data demonstrate that a prenatally diagnosed hydrocephalus should be regarded as an indication for a chromosomal analysis, with the highest amount of chromosomal disorders in fetuses with different additional malformations.
authors.affiliation: Institut fur Humangenetik, Universität Bonn, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
authors.forename: H
authors.initials: H
authors.lastname: Schüler
authors.forename: U
authors.initials: U
authors.lastname: Gembruch
authors.forename: K
authors.initials: K
authors.lastname: Zerres
mesh_terms: D006332:Cardiomegaly / Q000000981:diagnostic imaging / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics*; D014314:Trisomy; D014463:Ultrasonography