Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.

ABSTRACT:

Objective

To investigate the diagnostic yield of clinical whole-genome sequencing (WGS) in prenatally diagnosed non-immune hydrops fetalis (NIHF).

Methods

This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy-number variants, referred for analysis by WGS with an in-silico panel of 281 genes associated with hydrops fetalis. Due to identification of a high proportion of causative variants in the HRAS gene in the main cohort, Sanger sequencing of HRAS was performed in a replication cohort, consisting of 24 additional fetuses with NIHF that were negative for trisomies and copy-number variants and had not undergone WGS.

Results

Of the 23 fetuses in the main cohort, a molecular diagnosis was achieved in 12 (52.2%). Path

SUBMITTER: Westenius E 

PROVIDER: S-EPMC9804469 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature