EP06.03: Prenatal diagnosis of sternal cleft

A 32-year old woman presented to our hospital at 26.1 weeks' gestation for a second opinion on the diagnosis of severe IUGR. Our US confirmed an EFW<3rd centile+Uterine arteries PI>95th centile. Detailed anatomical examination revealed a thin midline thoracic wall with an underlying pulsatile heart. When the fetuses hiccupped, a deep depression appeared in the middle of the chest. Genetic studies were normal and pre-eclampsia and maternal infection were excluded. Fetal echocardiography confirmed a medial and inferior defect of the thoracic wall through which the apex of the heart protruded during each cardiac cycle. MRI at 30w confirmed a partial sternal cleft in the superior third and an asymmetric right pectum excavatum, cervicodorsal hyperkyphosis and a low conus medullaris. The exome study did not identify any pathogenic genetic variant. Subsequent fetal Doppler studies found an increase in EFW to the 13th centile at 38 weeks' gestation. Vaginal delivery was performed at 38.5 weeks' gestation and a 2640g male was born with a normal Apgar score. Postnatally, sternal cleft was confirmed by the presence of subcutaneous cardiac pulsations and a cutaneous defect in the inferior sternal region and median supraumbilical raphe. Cardiorespiratory function was normal. X-rays showed a partial agenesis of the right clavicle, and medullary sonography and MRI confirmed a low medullary conus (L3-L4). Computed tomography angiography performed at 5 days of age confirmed a right clavicle with a fusion defect in its middle third, the upper part of the sternal manubrium, but no bony or cartilaginous fusion in the rest of the caudal extension (inverted V-shaped). Corrective surgery was performed at 28 days of age: Right clavicle reconstruction+primary closure of the cleft+ partial thymectomy. The procedure was successful and the baby made a satisfactory recovery. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.