Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

ABSTRACT:

Background

Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation sequencing as a tool to improve the diagnosis of rare diseases in newborns in the NICU.

Methods

We retrospectively identified and prospectively recruited newborns and infants admitted to the NICU of the Children's Hospital of Eastern Ontario and the Ottawa Hospital, General Campus, who had been referred to the medical genetics or metabolics inpatient consult service

SUBMITTER: Daoud H 

PROVIDER: S-EPMC4978597 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature