Genetic testing strategies in the newborn.

Genetic Counseling Genetic Testing High-Throughput Nucleotide Sequencing Humans Infant, Newborn Infant, Newborn, Diseases / diagnosis Intensive Care Units, Neonatal

Journal

Journal of perinatology : official journal of the California Perinatal Association
ISSN: 1476-5543
Titre abrégé: J Perinatol
Pays: United States
ID NLM: 8501884

Informations de publication

Date de publication:
07 2020
Historique:
received: 27 11 2019
accepted: 19 05 2020
revised: 30 04 2020
pubmed: 31 5 2020
medline: 1 9 2021
entrez: 31 5 2020
Statut: ppublish

Résumé

Genetic disorders presenting in the neonatal period can have a significant impact on morbidity and mortality. Early diagnosis can facilitate timely prognostic counseling to families and possibility of precision care, which could improve outcome. As availability of diagnostic testing expands, the required knowledge base of the neonatologist must also expand to include proper application and understanding of genetic testing modalities, especially where availability of clinical genetics consultation is limited. Herein, we review genetic tests utilized in the neonatal intensive care unit (NICU) providing background on the technology, clinical indications, advantages, and limitations of the tests. This review will span from classic cytogenetics to the evolving role of next generation sequencing and its impact on the management of neonatal disease.

Identifiants

DOI: 10.1038/s41372-020-0697-y PMID: 32472107
pubmed: 32472107
doi: 10.1038/s41372-020-0697-y
pii: 10.1038/s41372-020-0697-y
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1007-1016

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Auteurs

Jeanne Carroll (J)

Department of Pediatrics, University of California, La Jolla, CA, USA. jcarroll@rchsd.org.
Division of Neonatology, Rady Children's Hospital, San Diego, CA, USA. jcarroll@rchsd.org.
Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. jcarroll@rchsd.org.

Kristen Wigby (K)

Department of Pediatrics, University of California, La Jolla, CA, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Division of Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA.

Sarah Murray (S)

Department of Pathology, University of California San Diego, La Jolla, CA, USA.
Center for Advanced Laboratory Medicine, University of California San Diego Health, La Jolla, CA, USA.

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Classifications MeSH

questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de génétique › Conseil génétique › Genetic testing strategies in the newborn.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Genetic testing strategies in the newborn.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Genetic testing strategies in the newborn.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic testing strategies in the newborn.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Genetic testing strategies in the newborn.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Genetic testing strategies in the newborn.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Établissements de santé › Unités hospitalières › Unités de soins intensifs › Unités de soins intensifs pédiatriques › Unités de soins intensifs néonatals › Genetic testing strategies in the newborn.