Author/Authors :
KAYGUSUZ, Ecmel Işık Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi - Patoloji Bölümü, Turkey , EKEN, Meryem Kadın Hastalıkları ve Doğum Kliniği, Turkey , HERKİLOĞLU, Dilşad Kadın Hastalıkları ve Doğum Kliniği, Turkey , İÇÖZ, Şeyma Kadın Hastalıkları ve Doğum Kliniği, Turkey , KARATEKE, Ateş Kadın Hastalıkları ve Doğum Kliniği, Turkey
Abstract :
Objective: Holoprosencephaly (HPE) is a morphological anomaly of the brain that is characterised with unsuccessful or incomplete separation of the forebrain in early gestation. Approximately 80% of HPE cases is accompanied by a spectrum of characteristic craniofacial anomalies. HPE is a common forebrain defect in humans, with a prevalence of 1:250 in embryos and 1:16,000 among live-born infants. HPE is usually diagnosed by gestational ultrasound examination. Infants with mild or moderate brain anomalies may not be diagnosed until the first year of life. The aim of the study was to search for the defects of HPE in our cases and discuss the findings in view of the literature. Cases: We identified 6 patients with HPE from our hospital database. We herein describe the clinical, genetic and structural abnormalities of the fetuses with HPE. Conclusion: The ultrasonographic examination of the brain in fetuses with a small head may be difficult and the first trimester features of HPE can be easily overlooked. It is important to examine cerebral structures of fetuses very carefully in the first trimester to detect the HPE features
