Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.

ABSTRACT:

Background

Next-generation sequencing is increasingly used in prenatal diagnosis. Targeted gene panels and exome sequencing are both available, but the comparative diagnostic yields of these approaches are not known.

Objective

We compared the diagnostic yield of exome sequencing with the simulated application of commercial targeted gene panels in a large cohort of fetuses with nonimmune hydrops fetalis.

Study design

This was a secondary analysis of a cohort study of exome sequencing for nonimmune hydrops fetalis, in which recruitment, exome sequencing, and phenotype-driven variant analysis were completed in 127 pregnancies with features of nonimmune hydrops fetalis. An Internet search was performed to identify commercial laboratories that offer targeted gene panels fo

SUBMITTER: Norton ME 

PROVIDER: S-EPMC8748274 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature