Prenatal Diagnosis of Apert Syndrome

Abstract

Purpose. To explore the ultrasound and pathomorphological signs of Apert syndrome in the fetus. Materials and methods. Sonography was performed on a Voluson 730 Expert using a transabdominal (4–8 MHz) sensor. The nosological diagnosis is established by the result of pathomorphological and histological studies. Results. We present sporadic case of Apert syndrome in the fetus of the second trimester. The ultrasound (US) signs were expansion of the lateral ventricles of the brain, deformation of the skull and syndactyly of II–V hands. The diagnosis was established by pathomorphological expertise. Conclusions. Apert syndrome characterized by a unique set abnormalities, but it is difficult to determine prenatal diagnosis in second trimester. With ultrasound imaging of fetal hand syndactyly, it is necessary to study of the brain to search for possible additional markers of craniosynostosis: deformation of the skull, expansion and/or atypical shape of the lateral ventricles, agenesis (dysgenesis) of the corpus callosum.