Molecular testing strategies in the evaluation of fetal skeletal dysplasia.

Objective: The aim of this study was to characterize the fetal sonographic findings and the approach utilized to obtain a definitive diagnosis through molecular testing strategies.

Methods: This is a retrospective case series of fetuses referred for consultation for prenatal findings suggestive of a skeletal dysplasia between March 1, 2014 and March 1, 2016. Ultrasound images, their timing in gestation and reported findings were reviewed and skeletal abnormalities were documented.