Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit. Clin Perinatol 2022 Mar;49(1):167-179
Date
02/26/2022Pubmed ID
35209999DOI
10.1016/j.clp.2021.11.018Scopus ID
2-s2.0-85123361015 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
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 MAuthor
Michael Muriello MD Assistant Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ChildExome
Genetic Testing
Humans
Infant, Newborn
Intensive Care Units, Neonatal
Prospective Studies
Retrospective Studies
Whole Genome Sequencing