Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

ABSTRACT:

Importance

While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined.

Objective

To determine the diagnostic yield and use of clinical exome sequencing in critically ill infants.

Design, setting, and participants

Clinical exome sequencing was performed for 278 unrelated infants within the first 100 days of life who were admitted to Texas Children's Hospital in Houston, Texas, during a 5-year period between December 2011 and January 2017. Exome sequencing types included proband exome, trio exome, and critical trio exome, a rapid genomic assay for seriously ill infants.

Main outcomes and measures

Indications for testing, diagnostic yield o

SUBMITTER: Meng L 

PROVIDER: S-EPMC6359927 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature