Putting genome-wide sequencing in neonates into perspective
| Autor: | Setareh Moghadasi, Emilia K. Bijlsma, Remco van Doorn, Monique Williams, Maartje van Rij, Remco Visser, Thomas P. Potjer, Arend D. J. ten Harkel, Yvette van Ierland, Laura Donker Kaat, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Cacha M.P.C.D. Peeters-Scholte, Nicolette S. den Hollander, Ratna N G B Tan, Ruben S G M Witlox, Regina Bökenkamp-Gramann, Julie W. Rutten, Manon Suerink, Marjolein Kriek, Yvonne Hilhorst-Hofstee, Sylke J. Steggerda, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Anne-Sophie van der Werf –’t Lam, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Dietje E. Fransen van de Putte, Arie van Haeringen, Karin van der Tuin, Esther A. R. Nibbeling |
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| Přispěvatelé: | Neurology, Graduate School |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
NICU Male Pediatrics medicine.medical_specialty Neonatal intensive care unit health care facilities manpower and services Population clinical geneticists 030105 genetics & heredity Genome Infant Newborn Diseases Single test 03 medical and health sciences Exome Sequencing Clinical genetic medicine Humans Exome Genetic Testing Medical diagnosis education Genetics (clinical) Exome sequencing Retrospective Studies education.field_of_study business.industry Infant Newborn Chromosome Mapping sequencing rapid 030104 developmental biology ES Intensive Care Neonatal Female business Genome-Wide Association Study |
| Zdroj: | Genetics in Medicine, 21(5), 1074-1082. Lippincott Williams & Wilkins Genetics in Medicine, 21(5), 1074-1082 Genetics in Medicine Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkins |
| ISSN: | 1098-3600 |
| Popis: | Purpose: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagnostic options still remains unquantified in this population. Methods: We retrospectively evaluated all genetic NICU consultations in a 2-year period. Results: In 132 retrospectively evaluated NICU consultations 27 of 32 diagnoses (84.4%) were made using standard genetic workup. Most diagnoses (65.6%) were made within 16 days. Diagnostic ES yield was 5/29 (17.2%). Genetic diagnoses had a direct effect on clinical management in 90.6% (29/32) of patients. Conclusions: Our study shows that exome sequencing has a place in NICU diagnostics, but given the associated costs and the high yield of alternative diagnostic strategies, we recommend to first perform clinical genetic consultation. |
| Databáze: | OpenAIRE |
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