Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.

ABSTRACT:

Objective

Fetal skeletal dysplasia (SD) is a complex group of bone and cartilage with high genetic heterogeneity and phenotypic diversity. Our study aimed to identify the genetic causes of fetal SD, provide an accurate prenatal diagnosis for those families investigate non-invasive prenatal detection strategy, and facilitate clinical diagnosis of fetal SD.

Materials and methods

A Total 34 fetuses with SD were recruited and analyzed using chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Moreover, a non-invasive prenatal diagnosis (NIPD) based on next-generation sequencing (NGS) using circulating fetal DNA in maternal plasma was performed on 5 SD fetuses.

Results

A Total 55.88% (19/34) fetueses with SD were identified with the genetic etiologies. A

SUBMITTER: Wang L 

PROVIDER: S-EPMC12777751 | biostudies-literature | 2026 Dec

REPOSITORIES: biostudies-literature