P02.38: The prenatal ultrasound diagnostics of isolated absence of the sternum and cartilaginous parts of the ribs: a case report

Abstract

A 32 year-old primigravida with congenital neurofibromatosis was referred to ultrasound department of Republican Clinical Hospital because of slightly displaced heart and hypoplasia of abdominal wall soft tissue, diagnosed in local genetic laboratory in time of second-trimester prenatal screening at 22 weeks of gestation. First-trimester screening data were normal. During ultrasound examination at 24 weeks of gestation we found partial, very small herniation of the slightly displaced heart with normal intracardiac structures, unusually straight osteal parts of ribs, the absence of cartilaginous parts of the ribs, sternum was not visualized. Normal skin covered this area. Understanding the difficulties of sternum visualization we decided to follow up the pregnancy during two weeks and perform the cordocentesis in this time, karyotópe was normal. At 26 weeks we found progressive changes in fetal anatomy: heart herniation became larger, left lobe of liver began to protruse, the absence of the sternum and cartilaginous parts of the ribs was confirmed. Patient was offered pregnancy termination because of the impossibility of surgical correction. Radiography, CT and morphology of abortus confirmed ultrasound diagnosis of isolated absence of the sternum and cartilaginous parts of the ribs.