Genetic analysis of 55 cases with fetal skeletal dysplasia.

ABSTRACT:

Background

Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatally using ultrasound (US). However, the diagnostic accuracy of the US is limited.

Methods

We recruited 55 unrelated fetuses with US-detected skeletal anomalies and performed sequential tests using copy number variation sequencing, targeted skeletal gene panel sequencing, or whole exome sequencing. The detected variants were validated using Sanger sequencing or multiplex ligation-dependent probe amplification. We conducted breakpoint analysis and structural modeling of variants possibly involved in fetal SD.

Results

A definitive diagnosis was achieved in

SUBMITTER: Bai Y 

PROVIDER: S-EPMC9648031 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature