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Chromosomal findings in fetuses with prenatally diagnosed cysts of the choroid plexus
Authors:K. Zerres  H. Schüler  U. Gembruch  R. Bald  M. Hansmann  G. Schwanitz
Affiliation:(1) Institut für Humangenetik der Universität, Wilhelmstrasse 31, W-5300, 1 Bonn, Federal Republic of Germany;(2) Abteilung für Pränatale Diagnostik und Therapie, Zentrum für Frauenheilkunde der Universität, W-5300 Bonn, Federal Republic of Germany
Abstract:Summary Choroid plexus cysts were diagnosed in 25 out of 823 fetuses with prenatally diagnosed abnormalities (growth retardation/malformations). Among these, 5 revealed a chromosomal disorder (4 cases with trisomy 18 and one case with a translocation trisomy 21). Additional abnormalities, such as growth retardation, holoprosencephaly, hydrocephalus and club foot, were found in 6 out of the 20 fetuses with no chromosomal abnormality. All fetuses with a chromosomal disorder revealed further typical prenatally recognizable abnormalities. Our observation indicates that prenatally diagnosed choroid plexus cysts should be considered as an indication for prenatal chromosomal diagnosis, although the risk of there being an underlying chromosomal disorder is low in cases with no additional abnormalities.
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