Application of whole exome sequencing in fetal cases with skeletal abnormalities.

ABSTRACT:

Objectives

To investigate the role of whole exome sequencing (WES) technology in fetuses with skeletal abnormalities (SKA) for establishing an appropriate clinical diagnosis and treatment path.

Methods

From April 2019 to August 2020, eight special families were enrolled into the study. Their fetuses showed abnormal SKA by ultrasonic testing during pregnancy, but it is inconsistent with the normal results identified by chromosomal microarray analysis (CMA) of amniotic fluid or abortion. For further diagnosis, WES was performed to detect the causative genes mutations followed by Sanger sequencing.

Results

Among of these eight fetuses with SKA, we found more than half of pathogenic mutations were in COL1A1/2 gene, except for a known hotspot mutation in FGFR3

SUBMITTER: Cao J 

PROVIDER: S-EPMC9287157 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature