Joan Sabrià1 *, Mar Benassar1 , Annabel Laborda2 , Miriam Pérez1 , Gemma Arca1 , Elena Muñoz3 , Olga Gómez1 and Josep Maria Martínez
BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Sant Joan de Déu and Hospital Clínic), Spain 2 Department of Obstetrics and Gynecology, Hospital Comarcal de l’Alt Penedès, Vilafranca del Penedès, Spain 3 Department of Pediatric Surgery, Hospital Sant Joan de Déu, SpainFulltext PDF
Adams-Oliver Syndrome (AOS) is a rare congenital disorder, characterized by limb reduction defects and congenital aplasia cutis. Central nervous and cardiopulmonary systems may also be affected. We describe the first report of a prenatally diagnosed case in a couple without history of affected children, presenting a distal limb reduction defect, an image compatible with detachment of the skin at the level of scalp and significant right heart dominance. A fetoscopic approach allowed to confirm the severity of the limb anomalies and the skin defect of the scalp and was critically useful to identify the vascular origin of the findings, ruling out the existence of amniotic bands. Moreover, fetoscopy was useful for parents, providing them a better understanding of the severity of the defects. After extensive counseling, parents opted for termination of pregnancy. All of the findings at postmortem examination confirmed the ultrasound and fetoscopic features and were consistent with the AOS. Our report shows that fetoscopy can be a useful tool to perform the differential diagnosis of uncommon entities, directly visualizing the type and extension of the different defects.
Adams-Oliver syndrome; Limb defects; Aplasia cutis; Fetoscopy
Sabrià J, Benassar M, Laborda A, Pérez M, Arca G, Muñoz E, et al. Fetoscopic Diagnosis of Adams-Oliver Syndrome. Clin Surg. 2021; 6: 3152..