Prenatal Diagnosis of a 25 Weeks Gestation Fetus With Bifid Choroid Plexus As a New Prominent Sign For Semilobar Holoprosencephaly: a Case Report

Authors : Serkan KAHYAOĞLU, Ümit TAŞDEMİR, Oktay KAYMAK, Hakan TİMUR, Nuri DANIŞMAN

Pages : 201-204

View : 32 | Download : 15

Publication Date : 2013-12-01

Article Type : Other Papers

Abstract :Introduction: Holoprosencephaly is a severe central nervous system malformation that is found 1 in 250 of all conceptions and 1 in 10.000 live births. Severe forms of the disease are not compatible with life and are also easy to detect prenatally but it could be hard to diagnose the milder forms of the disease. Timely detection of this pathological entity that can result with catastrophic outcomes has great importance. Determination of type specific new ultrasonographic diagnostic predictors of this malformation that has various phenotypes will assist clinicians to establish the correct diagnosis. Case: Bilateral bifid choroid plexus is presented in this case report as a new prominent prenatal ultrasonographic sign of semilobar holoprosencephaly in a 25 weeks gestation fetus that was terminated due to extensive neurological malformations. Conclusion: Since the prenatal ultrasonographic signs exhibit variations according to the severity of the disease in holoprosencephaly, it is critically important to detect the type specific ultrasonographic predictors of different phenotypes of the disease to establis the correct prenatal diagnosis for clinical management and prognosis of this rare entity. This is the first case that reports bifid choroid plexus as a new ultrasonographic prominent sign of semilobar holoprosencephaly.
Keywords : Holoprosencephaly, malformation, bifid choroid plexus