Molecular testing strategies in the evaluation of fetal skeletal dysplasia.

ABSTRACT:

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. Unique features were ascertained. The approach for molecular evaluation, and molecular results were extracted.

Results

Nine cases were referred for evaluation secondary to prenatal sonographic features suggestive of a skeletal dysplasia. In 4 cases a skeletal dysplasia was suspected prior to 1

SUBMITTER: Jelin AC 

PROVIDER: S-EPMC7858696 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature