Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit. Clin Perinatol 2022 Mar;49(1):167-179

Date

02/26/2022

Pubmed ID

35209999

DOI

10.1016/j.clp.2021.11.018

Scopus ID

2-s2.0-85123361015 (requires institutional sign-in at Scopus site)   5 Citations

Abstract

The role of genomic sequencing (exome and whole genome) in the neonatal intensive care unit (NICU) has changed with advances in technology and bioinformatics in the last decade. Evidence from 18 retrospective and prospective studies of exome and whole genome sequencing in pediatric intensive care settings has demonstrated an average diagnostic yield of close to 40% and an immediate impact on clinical management in more than 20% of patients tested, and the highest clinical utility was in the perinatal setting. Genomic sequencing, when indicated, should be the standard of care for patients in the NICU.

Author List

Muriello M

Author

Michael Muriello MD Assistant Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Child
Exome
Genetic Testing
Humans
Infant, Newborn
Intensive Care Units, Neonatal
Prospective Studies
Retrospective Studies
Whole Genome Sequencing