Congenital hypotonia: systematic approach for the antenatal detection of an elusive condition.

Congenital hypotonic conditions are rare and infrequently detected prenatally. Sonographic signs appear from the late second trimester. A targeted scan significantly increases prenatal detection. Comprehensive genetic testing, especially whole exome sequencing, is the cornerstone of diagnosis in congenital hypotonia. Provided are theoretical diagnostic models which may increase prenatal detection. This article is protected by copyright. All rights reserved.